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dbVar

Database of genomic structural variation

nsv6673478

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:322

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: 118 SVs from 35 studies. See in: genome view

Submitted genomic14,391,175-14,391,496

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6673478	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	14,391,175	14,391,496
nsv6673478	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	14,531,299	14,531,620

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18442550	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
nssv18442550	Submitted genomic		NC_000002.12:g.143 91175_14391496del	GRCh38 (hg38)		NC_000002.12	Chr2	14,391,175	14,391,496
nssv18442550	Remapped	Perfect	NC_000002.11:g.145 31299_14531620del	GRCh37.p13	First Pass	NC_000002.11	Chr2	14,531,299	14,531,620

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)
nssv18442550	0.056	14883	263084

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