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dbVar

Database of genomic structural variation

nsv6193361

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:124

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: 105 SVs from 27 studies. See in: genome view

Submitted genomic16,153,999-16,154,122

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6193361	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	16,153,999	16,154,122
nsv6193361	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	16,264,809	16,264,932

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17948468	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17948468	Submitted genomic		NC_000019.10:g.161 53999_16154122del	GRCh38 (hg38)		NC_000019.10	Chr19	16,153,999	16,154,122
nssv17948468	Remapped	Perfect	NC_000019.9:g.1626 4809_16264932del	GRCh37.p13	First Pass	NC_000019.9	Chr19	16,264,809	16,264,932

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)
nssv17948468	0.028	64	2322

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