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dbVar

Database of genomic structural variation

nsv7012353

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:79,470

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: 402 SVs from 67 studies. See in: genome view

Submitted genomic44,354,367-44,433,836

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7012353	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	44,354,367	44,433,836
nsv7012353	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	44,858,519	44,938,011

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18423829	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
nssv18423829	Submitted genomic		NC_000019.10:g.443 54367_44433836del	GRCh38 (hg38)		NC_000019.10	Chr19	44,354,367	44,433,836
nssv18423829	Remapped	Good	NC_000019.9:g.4485 8519_44938011del	GRCh37.p13	First Pass	NC_000019.9	Chr19	44,858,519	44,938,011

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)
nssv18423829	1.8e-05	5	275202

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