A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3576962



Internal ID18528557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:11176173..11210478hg38UCSC Ensembl
Innerchr2:11316299..11350604hg19UCSC Ensembl
Innerchr2:11233750..11268055hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3834306
hg1934306
hg1834306
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012083
Supporting Variants
Samples
Known GenesPQLC3, ROCK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3576962
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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