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dbVar

Database of genomic structural variation

nsv4711919

Organism: Homo sapiens

Study:nstd195 (Mwapagha et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

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

Publication(s):Mwapagha et al. 2021

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: 184 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):100,706,997-100,706,998

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4711919	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	100,706,997	100,706,998
nsv4711919	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	101,719,225	101,719,226

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv16239896	deletion	M456	Sequencing	Paired-end mapping	1	4,735
nssv16245571	deletion	B381	Sequencing	Paired-end mapping	1	5,743

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16239896	Remapped	Perfect	NC_000008.11:g.100 706997_100706998de l	GRCh38.p12	First Pass	NC_000008.11	Chr8	100,706,997	100,706,998
nssv16245571	Remapped	Perfect	NC_000008.11:g.100 706997_100706998de l	GRCh38.p12	First Pass	NC_000008.11	Chr8	100,706,997	100,706,998
nssv16239896	Submitted genomic		NC_000008.10:g.101 719225_101719226de l	GRCh37 (hg19)		NC_000008.10	Chr8	101,719,225	101,719,226
nssv16245571	Submitted genomic		NC_000008.10:g.101 719225_101719226de l	GRCh37 (hg19)		NC_000008.10	Chr8	101,719,225	101,719,226

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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