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dbVar

Database of genomic structural variation

nsv6225721

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:55

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: 79 SVs from 18 studies. See in: genome view

Submitted genomic51,339,840-51,339,894

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6225721	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	51,339,840	51,339,894
nsv6225721	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	51,843,094	51,843,148

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17945651	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17945651	Submitted genomic		NC_000019.10:g.513 39840_51339894del	GRCh38 (hg38)		NC_000019.10	Chr19	51,339,840	51,339,894
nssv17945651	Remapped	Perfect	NC_000019.9:g.5184 3094_51843148del	GRCh37.p13	First Pass	NC_000019.9	Chr19	51,843,094	51,843,148

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)
nssv17945651	0.004	10	2336

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