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dbVar

Database of genomic structural variation

nsv3393553

Organism: Homo sapiens

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

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:6,078

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: 163 SVs from 50 studies. See in: genome view

Submitted genomic19,764,877-19,770,954

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3393553	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	19,764,877	19,770,954
nsv3393553	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	19,765,108	19,771,185

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14773376	line1 deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14774657	line1 deletion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074
nssv14774714	line1 deletion	SAMN09651199	Sequencing	de novo and local sequence assembly	27,381
nssv14782140	line1 deletion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14785833	line1 deletion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14787042	line1 deletion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495
nssv14788403	line1 deletion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14789002	line1 deletion	SAMN06885952	Sequencing	de novo and local sequence assembly	28,070
nssv14789414	line1 deletion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14773376	Submitted genomic		NC_000006.12:g.197 64877_19770954del	GRCh38 (hg38)		NC_000006.12	Chr6	19,764,877	19,770,954
nssv14774657	Submitted genomic		NC_000006.12:g.197 64877_19770954del	GRCh38 (hg38)		NC_000006.12	Chr6	19,764,877	19,770,954
nssv14774714	Submitted genomic		NC_000006.12:g.197 64877_19770954del	GRCh38 (hg38)		NC_000006.12	Chr6	19,764,877	19,770,954
nssv14782140	Submitted genomic		NC_000006.12:g.197 64877_19770954del	GRCh38 (hg38)		NC_000006.12	Chr6	19,764,877	19,770,954
nssv14785833	Submitted genomic		NC_000006.12:g.197 64877_19770954del	GRCh38 (hg38)		NC_000006.12	Chr6	19,764,877	19,770,954
nssv14787042	Submitted genomic		NC_000006.12:g.197 64877_19770954del	GRCh38 (hg38)		NC_000006.12	Chr6	19,764,877	19,770,954
nssv14788403	Submitted genomic		NC_000006.12:g.197 64877_19770954del	GRCh38 (hg38)		NC_000006.12	Chr6	19,764,877	19,770,954
nssv14789002	Submitted genomic		NC_000006.12:g.197 64877_19770954del	GRCh38 (hg38)		NC_000006.12	Chr6	19,764,877	19,770,954
nssv14789414	Submitted genomic		NC_000006.12:g.197 64877_19770954del	GRCh38 (hg38)		NC_000006.12	Chr6	19,764,877	19,770,954
nssv14773376	Remapped	Perfect	NC_000006.11:g.197 65108_19771185delN C_000006.11:g.1976 5108_19771185del	GRCh37.p13	First Pass	NC_000006.11	Chr6	19,765,108	19,771,185
nssv14774657	Remapped	Perfect	NC_000006.11:g.197 65108_19771185delN C_000006.11:g.1976 5108_19771185del	GRCh37.p13	First Pass	NC_000006.11	Chr6	19,765,108	19,771,185
nssv14774714	Remapped	Perfect	NC_000006.11:g.197 65108_19771185delN C_000006.11:g.1976 5108_19771185del	GRCh37.p13	First Pass	NC_000006.11	Chr6	19,765,108	19,771,185
nssv14782140	Remapped	Perfect	NC_000006.11:g.197 65108_19771185delN C_000006.11:g.1976 5108_19771185del	GRCh37.p13	First Pass	NC_000006.11	Chr6	19,765,108	19,771,185
nssv14785833	Remapped	Perfect	NC_000006.11:g.197 65108_19771185delN C_000006.11:g.1976 5108_19771185del	GRCh37.p13	First Pass	NC_000006.11	Chr6	19,765,108	19,771,185
nssv14787042	Remapped	Perfect	NC_000006.11:g.197 65108_19771185delN C_000006.11:g.1976 5108_19771185del	GRCh37.p13	First Pass	NC_000006.11	Chr6	19,765,108	19,771,185
nssv14788403	Remapped	Perfect	NC_000006.11:g.197 65108_19771185delN C_000006.11:g.1976 5108_19771185del	GRCh37.p13	First Pass	NC_000006.11	Chr6	19,765,108	19,771,185
nssv14789002	Remapped	Perfect	NC_000006.11:g.197 65108_19771185delN C_000006.11:g.1976 5108_19771185del	GRCh37.p13	First Pass	NC_000006.11	Chr6	19,765,108	19,771,185
nssv14789414	Remapped	Perfect	NC_000006.11:g.197 65108_19771185delN C_000006.11:g.1976 5108_19771185del	GRCh37.p13	First Pass	NC_000006.11	Chr6	19,765,108	19,771,185

Showing 18 of 27

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

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