A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705995



Internal ID15095961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:93094312..93129740hg38UCSC Ensembl
Innerchr14:93560657..93596085hg19UCSC Ensembl
Innerchr14:92630410..92665838hg18UCSC Ensembl
Innerchr14:92630410..92665838hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3835429
hg1935429
hg1835429
hg1735429
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517691
Supporting Variants
Samples
Known GenesITPK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705995
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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