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dbVar

Database of genomic structural variation

nsv2781978

Organism: Homo sapiens

Study:nstd133 (Redin et al. 2016)
Variant Type:complex chromosomal rearrangement
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Publication(s):Redin et al. 2016

Links to Other Resources

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: 146 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):176,607,279-176,607,279

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781978	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	176,607,279	176,607,279	+
nsv2781978	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	176,607,922	176,607,922	-
nsv2781978	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	1,829,410	1,829,410	-
nsv2781978	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	1,831,452	1,831,452	+
nsv2781978	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	1,760,849	1,760,849	-
nsv2781978	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	1,762,891	1,762,891	+
nsv2781978	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	176,576,415	176,576,415	+
nsv2781978	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	176,577,058	176,577,058	-

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660509	inversion	NIJ21	Sequencing	Split read and paired-end mapping	SCV000320970	nssv13660508
nssv13660508	inversion	NIJ21	Sequencing	Split read and paired-end mapping	SCV000320970	nssv13660509

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv13660509	Remapped	Perfect	NC_000001.11:g.182 9410invNC_000001.1 1:g.176607279inv	GRCh38.p12	First Pass	NC_000001.11	Chr1	1,829,410	1,829,410
nssv13660508	Remapped	Perfect	NC_000001.11:g.183 1452invNC_000001.1 1:g.176607922inv	GRCh38.p12	First Pass	NC_000001.11	Chr1	1,831,452	1,831,452
nssv13660509	Remapped	Perfect	NC_000001.11:g.182 9410invNC_000001.1 1:g.176607279inv	GRCh38.p12	First Pass	NC_000001.11	Chr1	176,607,279	176,607,279
nssv13660508	Remapped	Perfect	NC_000001.11:g.183 1452invNC_000001.1 1:g.176607922inv	GRCh38.p12	First Pass	NC_000001.11	Chr1	176,607,922	176,607,922
nssv13660509	Submitted genomic		[NC_000001.10:g.17 60849inv];[NC_0000 01.10:g.176576415i nv]	GRCh37 (hg19)		NC_000001.10	Chr1	1,760,849	1,760,849
nssv13660508	Submitted genomic		[NC_000001.10:g.17 62891inv];[NC_0000 01.10:g.176577058i nv]	GRCh37 (hg19)		NC_000001.10	Chr1	1,762,891	1,762,891
nssv13660509	Submitted genomic		[NC_000001.10:g.17 60849inv];[NC_0000 01.10:g.176576415i nv]	GRCh37 (hg19)		NC_000001.10	Chr1	176,576,415	176,576,415
nssv13660508	Submitted genomic		[NC_000001.10:g.17 62891inv];[NC_0000 01.10:g.176577058i nv]	GRCh37 (hg19)		NC_000001.10	Chr1	176,577,058	176,577,058

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Clinical Interpretation	ClinVar ID	Gender	Other Calls in this Sample and Study
nssv13660509	NIJ21	GRCh37: [NC_000001.10:g.1760849inv];[NC_000001.10:g.176576415inv]	inversion		SCV000320970	Female	nssv13660508
nssv13660508	NIJ21	GRCh37: [NC_000001.10:g.1762891inv];[NC_000001.10:g.176577058inv]	inversion		SCV000320970	Female	nssv13660509

No genotype data were submitted for this variant

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