A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699513



Internal ID15089479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128269661..128366761hg38UCSC Ensembl
Innerchr2:129027235..129124335hg19UCSC Ensembl
Innerchr2:128743705..128840805hg18UCSC Ensembl
Innerchr2:128743465..128840565hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3897101
hg1997101
hg1897101
hg1797101
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516672
Supporting Variants
Samples
Known GenesHS6ST1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699513
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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