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dbVar

Database of genomic structural variation

nsv6223929

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:72

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: 96 SVs from 34 studies. See in: genome view

Submitted genomic49,462,851-49,462,922

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6223929	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	49,462,851	49,462,922
nsv6223929	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	49,966,108	49,966,179

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17949564	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17949564	Submitted genomic		NC_000019.10:g.494 62851_49462922del	GRCh38 (hg38)		NC_000019.10	Chr19	49,462,851	49,462,922
nssv17949564	Remapped	Perfect	NC_000019.9:g.4996 6108_49966179del	GRCh37.p13	First Pass	NC_000019.9	Chr19	49,966,108	49,966,179

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)
nssv17949564	0.015	34	2274

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