A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691141



Internal ID15427793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:25496423..25499508hg38UCSC Ensembl
Innerchr12:25649357..25652442hg19UCSC Ensembl
Innerchr12:25540624..25543709hg18UCSC Ensembl
Innerchr12:25540624..25543709hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg383086
hg193086
hg183086
hg173086
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519712
Supporting Variants
Samples
Known GenesIFLTD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691141
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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