A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696485



Internal ID15086451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:117907652..118850326hg38UCSC Ensembl
Innerchr4:118828807..119771481hg19UCSC Ensembl
Innerchr4:119048255..119990929hg18UCSC Ensembl
Innerchr4:119186410..120129084hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38942675
hg19942675
hg18942675
hg17942675
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519017
Supporting Variants
Samples
Known GenesCEP170P1, LOC729218, METTL14, NDST3, PRSS12, SEC24D, SNHG8, SNORA24
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696485
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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