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dbVar

Database of genomic structural variation

nsv6697243

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:1,307

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: 224 SVs from 56 studies. See in: genome view

Submitted genomic99,487,264-99,488,570

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6697243	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	99,487,264	99,488,570
nsv6697243	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	100,103,726	100,105,032

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18470876	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
nssv18470876	Submitted genomic		NC_000002.12:g.994 87264_99488570del	GRCh38 (hg38)		NC_000002.12	Chr2	99,487,264	99,488,570
nssv18470876	Remapped	Perfect	NC_000002.11:g.100 103726_100105032de l	GRCh37.p13	First Pass	NC_000002.11	Chr2	100,103,726	100,105,032

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)
nssv18470876	0.441	120502	273748

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