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dbVar

Database of genomic structural variation

nsv6650974

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:10,380

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: 163 SVs from 41 studies. See in: genome view

Submitted genomic48,472,126-48,482,505

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6650974	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	48,472,126	48,482,505
nsv6650974	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	48,937,798	48,948,177

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18409286	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
nssv18409286	Submitted genomic		NC_000001.11:g.484 72126_48482505del	GRCh38 (hg38)		NC_000001.11	Chr1	48,472,126	48,482,505
nssv18409286	Remapped	Perfect	NC_000001.10:g.489 37798_48948177del	GRCh37.p13	First Pass	NC_000001.10	Chr1	48,937,798	48,948,177

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)
nssv18409286	4e-06	1	276268

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