A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1152348



Internal ID15508426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:236195054..236263675hg38UCSC Ensembl
Innerchr2:237103697..237172318hg19UCSC Ensembl
Innerchr2:236768436..236837057hg18UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3868622
hg1968622
hg1868622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584723
Supporting Variants
Samples1780862444_A
Known GenesASB18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1152348
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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