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dbVar

Database of genomic structural variation

nsv7003193

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:6,341

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: 123 SVs from 25 studies. See in: genome view

Submitted genomic12,811,744-12,818,084

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7003193	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	12,811,744	12,818,084
nsv7003193	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	12,922,558	12,928,898

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18421620	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18421620	Submitted genomic		NC_000019.10:g.128 11744_12818084del	GRCh38 (hg38)		NC_000019.10	Chr19	12,811,744	12,818,084
nssv18421620	Remapped	Perfect	NC_000019.9:g.1292 2558_12928898del	GRCh37.p13	First Pass	NC_000019.9	Chr19	12,922,558	12,928,898

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)
nssv18421620	4e-06	1	276240

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