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dbVar

Database of genomic structural variation

nsv4716372

Organism: Homo sapiens

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

Variant Calls:3
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: 441 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):86,350,168-86,350,169

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4716372	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	86,350,168	86,350,169
nsv4716372	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	85,605,171	85,605,172

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv16232959	deletion	B450	Sequencing	Paired-end mapping	1	4,473
nssv16243713	deletion	M478	Sequencing	Paired-end mapping	1	4,557
nssv16247765	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
nssv16232959	Remapped	Perfect	NC_000023.11:g.863 50168_86350169del	GRCh38.p12	First Pass	NC_000023.11	ChrX	86,350,168	86,350,169
nssv16243713	Remapped	Perfect	NC_000023.11:g.863 50168_86350169del	GRCh38.p12	First Pass	NC_000023.11	ChrX	86,350,168	86,350,169
nssv16247765	Remapped	Perfect	NC_000023.11:g.863 50168_86350169del	GRCh38.p12	First Pass	NC_000023.11	ChrX	86,350,168	86,350,169
nssv16232959	Submitted genomic		NC_000023.10:g.856 05171_85605172del	GRCh37 (hg19)		NC_000023.10	ChrX	85,605,171	85,605,172
nssv16243713	Submitted genomic		NC_000023.10:g.856 05171_85605172del	GRCh37 (hg19)		NC_000023.10	ChrX	85,605,171	85,605,172
nssv16247765	Submitted genomic		NC_000023.10:g.856 05171_85605172del	GRCh37 (hg19)		NC_000023.10	ChrX	85,605,171	85,605,172

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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