A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997576



Internal ID19157112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:196690505..196735570hg38UCSC Ensembl
Innerchr2:197555229..197600294hg19UCSC Ensembl
Innerchr2:197263474..197308539hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3845066
hg1945066
hg1845066
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583986
Samples
Known GenesCCDC150, LOC100130452
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997576
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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