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dbVar

Database of genomic structural variation

nsv6274219

Organism: Homo sapiens

Study:nstd214 (Naslavsky 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:156

Publication(s):Naslavsky 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: 165 SVs from 28 studies. See in: genome view

Submitted genomic81,801,597-81,801,752

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6274219	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	81,801,597	81,801,752
nsv6274219	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	79,759,473	79,759,628

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17931896	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17931896	Submitted genomic		NC_000017.11:g.818 01597_81801752del	GRCh38 (hg38)		NC_000017.11	Chr17	81,801,597	81,801,752
nssv17931896	Remapped	Perfect	NC_000017.10:g.797 59473_79759628del	GRCh37.p13	First Pass	NC_000017.10	Chr17	79,759,473	79,759,628

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)
nssv17931896	0.002	5	2158

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