nsv3392683

Organism: Homo sapiens

Study:nstd162 (Audano et al. 2019)
Variant Type:mobile element deletion
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:11
Validation:Not tested
Clinical Assertions: No
Region Size:6,288

Description:Absence of a L1 insertion that is present in the reference
Publication(s):Audano et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 148 SVs from 54 studies. See in: genome view

Submitted genomic24,811,691-24,817,978

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3392683	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	24,811,691	24,817,978
nsv3392683	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	24,811,919	24,818,206

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14775354	line1 deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563
nssv14775519	line1 deletion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14777197	line1 deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14782313	line1 deletion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14783326	line1 deletion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074
nssv14784681	line1 deletion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14784721	line1 deletion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381
nssv14784894	line1 deletion	SAMN03255769	Sequencing	de novo and local sequence assembly	21,134
nssv14787265	line1 deletion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14787442	line1 deletion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495
nssv14788738	line1 deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14775354	Submitted genomic		NC_000006.12:g.248 11691_24817978del	GRCh38 (hg38)		NC_000006.12	Chr6	24,811,691	24,817,978
nssv14775519	Submitted genomic		NC_000006.12:g.248 11691_24817978del	GRCh38 (hg38)		NC_000006.12	Chr6	24,811,691	24,817,978
nssv14777197	Submitted genomic		NC_000006.12:g.248 11691_24817978del	GRCh38 (hg38)		NC_000006.12	Chr6	24,811,691	24,817,978
nssv14782313	Submitted genomic		NC_000006.12:g.248 11691_24817978del	GRCh38 (hg38)		NC_000006.12	Chr6	24,811,691	24,817,978
nssv14783326	Submitted genomic		NC_000006.12:g.248 11691_24817978del	GRCh38 (hg38)		NC_000006.12	Chr6	24,811,691	24,817,978
nssv14784681	Submitted genomic		NC_000006.12:g.248 11691_24817978del	GRCh38 (hg38)		NC_000006.12	Chr6	24,811,691	24,817,978
nssv14784721	Submitted genomic		NC_000006.12:g.248 11691_24817978del	GRCh38 (hg38)		NC_000006.12	Chr6	24,811,691	24,817,978
nssv14784894	Submitted genomic		NC_000006.12:g.248 11691_24817978del	GRCh38 (hg38)		NC_000006.12	Chr6	24,811,691	24,817,978
nssv14787265	Submitted genomic		NC_000006.12:g.248 11691_24817978del	GRCh38 (hg38)		NC_000006.12	Chr6	24,811,691	24,817,978
nssv14787442	Submitted genomic		NC_000006.12:g.248 11691_24817978del	GRCh38 (hg38)		NC_000006.12	Chr6	24,811,691	24,817,978
nssv14788738	Submitted genomic		NC_000006.12:g.248 11691_24817978del	GRCh38 (hg38)		NC_000006.12	Chr6	24,811,691	24,817,978
nssv14775354	Remapped	Perfect	NC_000006.11:g.248 11919_24818206delN C_000006.11:g.2481 1919_24818206del	GRCh37.p13	First Pass	NC_000006.11	Chr6	24,811,919	24,818,206
nssv14775519	Remapped	Perfect	NC_000006.11:g.248 11919_24818206delN C_000006.11:g.2481 1919_24818206del	GRCh37.p13	First Pass	NC_000006.11	Chr6	24,811,919	24,818,206
nssv14777197	Remapped	Perfect	NC_000006.11:g.248 11919_24818206delN C_000006.11:g.2481 1919_24818206del	GRCh37.p13	First Pass	NC_000006.11	Chr6	24,811,919	24,818,206
nssv14782313	Remapped	Perfect	NC_000006.11:g.248 11919_24818206delN C_000006.11:g.2481 1919_24818206del	GRCh37.p13	First Pass	NC_000006.11	Chr6	24,811,919	24,818,206
nssv14783326	Remapped	Perfect	NC_000006.11:g.248 11919_24818206delN C_000006.11:g.2481 1919_24818206del	GRCh37.p13	First Pass	NC_000006.11	Chr6	24,811,919	24,818,206
nssv14784681	Remapped	Perfect	NC_000006.11:g.248 11919_24818206delN C_000006.11:g.2481 1919_24818206del	GRCh37.p13	First Pass	NC_000006.11	Chr6	24,811,919	24,818,206
nssv14784721	Remapped	Perfect	NC_000006.11:g.248 11919_24818206delN C_000006.11:g.2481 1919_24818206del	GRCh37.p13	First Pass	NC_000006.11	Chr6	24,811,919	24,818,206
nssv14784894	Remapped	Perfect	NC_000006.11:g.248 11919_24818206delN C_000006.11:g.2481 1919_24818206del	GRCh37.p13	First Pass	NC_000006.11	Chr6	24,811,919	24,818,206
nssv14787265	Remapped	Perfect	NC_000006.11:g.248 11919_24818206delN C_000006.11:g.2481 1919_24818206del	GRCh37.p13	First Pass	NC_000006.11	Chr6	24,811,919	24,818,206
nssv14787442	Remapped	Perfect	NC_000006.11:g.248 11919_24818206delN C_000006.11:g.2481 1919_24818206del	GRCh37.p13	First Pass	NC_000006.11	Chr6	24,811,919	24,818,206
nssv14788738	Remapped	Perfect	NC_000006.11:g.248 11919_24818206delN C_000006.11:g.2481 1919_24818206del	GRCh37.p13	First Pass	NC_000006.11	Chr6	24,811,919	24,818,206

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dbVar

Database of genomic structural variation

nsv3392683

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Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant