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dbVar

Database of genomic structural variation

nsv6719141

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:135

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: 146 SVs from 28 studies. See in: genome view

Submitted genomic186,786,760-186,786,894

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6719141	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	186,786,760	186,786,894
nsv6719141	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	186,504,549	186,504,683

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18673956	duplication	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
nssv18673956	Submitted genomic		NC_000003.12:g.186 786760_186786894du p	GRCh38 (hg38)		NC_000003.12	Chr3	186,786,760	186,786,894
nssv18673956	Remapped	Perfect	NC_000003.11:g.186 504549_186504683du p	GRCh37.p13	First Pass	NC_000003.11	Chr3	186,504,549	186,504,683

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)
nssv18673956	0.009	1953	230378

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