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dbVar

Database of genomic structural variation

nsv6889978

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:3,142

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

Submitted genomic127,987,350-127,990,491

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6889978	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	127,987,350	127,990,491
nsv6889978	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000010.10	Chr10	129,785,614	129,788,755

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18347814	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
nssv18347814	Submitted genomic		NC_000010.11:g.127 987350_127990491de l	GRCh38 (hg38)		NC_000010.11	Chr10	127,987,350	127,990,491
nssv18347814	Remapped	Perfect	NC_000010.10:g.129 785614_129788755de l	GRCh37.p13	First Pass	NC_000010.10	Chr10	129,785,614	129,788,755

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)
nssv18347814	4e-06	1	275814

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