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dbVar

Database of genomic structural variation

nsv5521549

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:98

Publication(s):Byrska-Bishop et al. 2022

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: 144 SVs from 33 studies. See in: genome view

Submitted genomic73,192,833-73,192,930

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5521549	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	73,192,833	73,192,930
nsv5521549	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	71,188,972	71,189,069

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17714477	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17714477	Submitted genomic		NC_000017.11:g.731 92833_73192930del	GRCh38 (hg38)		NC_000017.11	Chr17	73,192,833	73,192,930
nssv17714477	Remapped	Perfect	NC_000017.10:g.711 88972_71189069del	GRCh37.p13	First Pass	NC_000017.10	Chr17	71,188,972	71,189,069

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17714477	0.519	3319	6388

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