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dbVar

Database of genomic structural variation

nsv6720890

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:320

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: 162 SVs from 57 studies. See in: genome view

Submitted genomic148,849,015-148,849,334

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6720890	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	148,849,015	148,849,334
nsv6720890	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	148,566,802	148,567,121

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18474355	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
nssv18474355	Submitted genomic		NC_000003.12:g.148 849015_148849334de l	GRCh38 (hg38)		NC_000003.12	Chr3	148,849,015	148,849,334
nssv18474355	Remapped	Perfect	NC_000003.11:g.148 566802_148567121de l	GRCh37.p13	First Pass	NC_000003.11	Chr3	148,566,802	148,567,121

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)
nssv18474355	0.972	266957	274636

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