A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173784



Internal ID15876984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16021917..16066862hg38UCSC Ensembl
Innerchr1:16348412..16393357hg19UCSC Ensembl
Innerchr1:16220999..16265944hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3844946
hg1944946
hg1844946
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545633
Supporting Variants
SamplesHGDP00923
Known GenesCLCNKA, CLCNKB, FAM131C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173784
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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