A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998272



Internal ID19157809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:41854716..41885669hg38UCSC Ensembl
Innerchr2:42081856..42112809hg19UCSC Ensembl
Innerchr2:41935360..41966313hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3830954
hg1930954
hg1830954
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3725983
Samples
Known GenesLOC388942
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998272
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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