A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703578



Internal ID15440230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:995155..1207412hg38UCSC Ensembl
Innerchr5:995270..1207527hg19UCSC Ensembl
Innerchr5:1048270..1260527hg18UCSC Ensembl
Innerchr5:1048270..1260527hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38212258
hg19212258
hg18212258
hg17212258
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527182
Supporting Variants
Samples
Known GenesLOC100506688, MIR4635, NKD2, SLC12A7, SLC6A19
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703578
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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