A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151345



Internal ID15508462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:188931546..188991217hg38UCSC Ensembl
Innerchr2:189796272..189855943hg19UCSC Ensembl
Innerchr2:189504517..189564188hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3859672
hg1959672
hg1859672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584057
Supporting Variants
Samples1780862459_A
Known GenesCOL3A1, MIR1245A, MIR1245B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151345
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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