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dbVar

Database of genomic structural variation

nsv5523645

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:9,747

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: 156 SVs from 25 studies. See in: genome view

Submitted genomic76,006,457-76,016,203

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5523645	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	76,006,457	76,016,203
nsv5523645	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	74,002,538	74,012,284

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17714681	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17714681	Submitted genomic		NC_000017.11:g.760 06457_76016203del	GRCh38 (hg38)		NC_000017.11	Chr17	76,006,457	76,016,203
nssv17714681	Remapped	Perfect	NC_000017.10:g.740 02538_74012284del	GRCh37.p13	First Pass	NC_000017.10	Chr17	74,002,538	74,012,284

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)
nssv17714681	<0.001	1	6404

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