A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv722429



Internal ID15669699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111283987..111317290hg38UCSC Ensembl
Innerchr1:111826609..111859912hg19UCSC Ensembl
Innerchr1:111628132..111661435hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3833304
hg1933304
hg1833304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547536
Supporting Variants
Samples
Known GenesCHIA, CHIAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv722429
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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