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dbVar

Database of genomic structural variation

nsv3381855

Organism: Homo sapiens

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

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:2,600

Description:Absence of a SVA 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 43 studies. See in: genome view

Submitted genomic56,893,550-56,896,149

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3381855	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	56,893,550	56,896,149
nsv3381855	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	56,758,348	56,760,947

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14812132	sva deletion	SAMN03255769	Sequencing	de novo and local sequence assembly	21,134
nssv14812292	sva deletion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14812675	sva deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14813300	sva deletion	SAMN05603847	Sequencing	de novo and local sequence assembly	26,021
nssv14813729	sva deletion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14814108	sva deletion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074
nssv14814549	sva deletion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336
nssv14814789	sva deletion	SAMN06885952	Sequencing	de novo and local sequence assembly	28,070

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14812132	Submitted genomic		NC_000006.12:g.568 93550_56896149del	GRCh38 (hg38)		NC_000006.12	Chr6	56,893,550	56,896,149
nssv14812292	Submitted genomic		NC_000006.12:g.568 93550_56896149del	GRCh38 (hg38)		NC_000006.12	Chr6	56,893,550	56,896,149
nssv14812675	Submitted genomic		NC_000006.12:g.568 93550_56896149del	GRCh38 (hg38)		NC_000006.12	Chr6	56,893,550	56,896,149
nssv14813300	Submitted genomic		NC_000006.12:g.568 93550_56896149del	GRCh38 (hg38)		NC_000006.12	Chr6	56,893,550	56,896,149
nssv14813729	Submitted genomic		NC_000006.12:g.568 93550_56896149del	GRCh38 (hg38)		NC_000006.12	Chr6	56,893,550	56,896,149
nssv14814108	Submitted genomic		NC_000006.12:g.568 93550_56896149del	GRCh38 (hg38)		NC_000006.12	Chr6	56,893,550	56,896,149
nssv14814549	Submitted genomic		NC_000006.12:g.568 93550_56896149del	GRCh38 (hg38)		NC_000006.12	Chr6	56,893,550	56,896,149
nssv14814789	Submitted genomic		NC_000006.12:g.568 93550_56896149del	GRCh38 (hg38)		NC_000006.12	Chr6	56,893,550	56,896,149
nssv14812132	Remapped	Perfect	NC_000006.11:g.567 58348_56760947delN C_000006.11:g.5675 8348_56760947del	GRCh37.p13	First Pass	NC_000006.11	Chr6	56,758,348	56,760,947
nssv14812292	Remapped	Perfect	NC_000006.11:g.567 58348_56760947delN C_000006.11:g.5675 8348_56760947del	GRCh37.p13	First Pass	NC_000006.11	Chr6	56,758,348	56,760,947
nssv14812675	Remapped	Perfect	NC_000006.11:g.567 58348_56760947delN C_000006.11:g.5675 8348_56760947del	GRCh37.p13	First Pass	NC_000006.11	Chr6	56,758,348	56,760,947
nssv14813300	Remapped	Perfect	NC_000006.11:g.567 58348_56760947delN C_000006.11:g.5675 8348_56760947del	GRCh37.p13	First Pass	NC_000006.11	Chr6	56,758,348	56,760,947
nssv14813729	Remapped	Perfect	NC_000006.11:g.567 58348_56760947delN C_000006.11:g.5675 8348_56760947del	GRCh37.p13	First Pass	NC_000006.11	Chr6	56,758,348	56,760,947
nssv14814108	Remapped	Perfect	NC_000006.11:g.567 58348_56760947delN C_000006.11:g.5675 8348_56760947del	GRCh37.p13	First Pass	NC_000006.11	Chr6	56,758,348	56,760,947
nssv14814549	Remapped	Perfect	NC_000006.11:g.567 58348_56760947delN C_000006.11:g.5675 8348_56760947del	GRCh37.p13	First Pass	NC_000006.11	Chr6	56,758,348	56,760,947
nssv14814789	Remapped	Perfect	NC_000006.11:g.567 58348_56760947delN C_000006.11:g.5675 8348_56760947del	GRCh37.p13	First Pass	NC_000006.11	Chr6	56,758,348	56,760,947

Showing 16 of 24

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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