A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151127



Internal ID15506753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197284043..197367915hg38UCSC Ensembl
Innerchr2:198148767..198232639hg19UCSC Ensembl
Innerchr2:197857012..197940884hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3883873
hg1983873
hg1883873
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584155
Supporting Variants
Samples1780854205_A
Known GenesANKRD44
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151127
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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