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dbVar

Database of genomic structural variation

nsv6148210

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:57

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: 60 SVs from 13 studies. See in: genome view

Submitted genomic5,988,117-5,988,173

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6148210	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	5,988,117	5,988,173
nsv6148210	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	6,128,249	6,128,305

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17861145	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17861145	Submitted genomic		NC_000002.12:g.598 8117_5988173del	GRCh38 (hg38)		NC_000002.12	Chr2	5,988,117	5,988,173
nssv17861145	Remapped	Perfect	NC_000002.11:g.612 8249_6128305del	GRCh37.p13	First Pass	NC_000002.11	Chr2	6,128,249	6,128,305

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)
nssv17861145	0.005	12	2340

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