A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694114



Internal ID15084080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:23352590..23365281hg38UCSC Ensembl
InnerchrX:23370707..23383398hg19UCSC Ensembl
InnerchrX:23280628..23293319hg18UCSC Ensembl
InnerchrX:23130364..23143055hg17UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg3812692
hg1912692
hg1812692
hg1712692
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521962
Supporting Variants
Samples
Known GenesPTCHD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694114
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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