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dbVar

Database of genomic structural variation

nsv4716360

Organism: Homo sapiens

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

Variant Calls:4
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: 341 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):9,411,648-9,411,649

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4716360	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	9,411,648	9,411,649
nsv4716360	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	9,411,760	9,411,761

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv16235598	deletion	M456	Sequencing	Paired-end mapping	1	4,735
nssv16241478	deletion	M478	Sequencing	Paired-end mapping	1	4,557
nssv16246934	deletion	B381	Sequencing	Paired-end mapping	1	5,743
nssv16249142	deletion	B450	Sequencing	Paired-end mapping	1	4,473

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16235598	Remapped	Perfect	NC_000005.10:g.941 1648_9411649del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,411,648	9,411,649
nssv16241478	Remapped	Perfect	NC_000005.10:g.941 1648_9411649del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,411,648	9,411,649
nssv16246934	Remapped	Perfect	NC_000005.10:g.941 1648_9411649del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,411,648	9,411,649
nssv16249142	Remapped	Perfect	NC_000005.10:g.941 1648_9411649del	GRCh38.p12	First Pass	NC_000005.10	Chr5	9,411,648	9,411,649
nssv16235598	Submitted genomic		NC_000005.9:g.9411 760_9411761del	GRCh37 (hg19)		NC_000005.9	Chr5	9,411,760	9,411,761
nssv16241478	Submitted genomic		NC_000005.9:g.9411 760_9411761del	GRCh37 (hg19)		NC_000005.9	Chr5	9,411,760	9,411,761
nssv16246934	Submitted genomic		NC_000005.9:g.9411 760_9411761del	GRCh37 (hg19)		NC_000005.9	Chr5	9,411,760	9,411,761
nssv16249142	Submitted genomic		NC_000005.9:g.9411 760_9411761del	GRCh37 (hg19)		NC_000005.9	Chr5	9,411,760	9,411,761

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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