A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000245



Internal ID19089462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:168940550..168974005hg38UCSC Ensembl
Innerchr2:169797060..169830515hg19UCSC Ensembl
Innerchr2:169505306..169538761hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3833456
hg1933456
hg1833456
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583023
Samples
Known GenesABCB11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000245
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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