A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545506



Internal ID16332915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12834668..12855993hg38UCSC Ensembl
Innerchr1:12894519..12915847hg19UCSC Ensembl
Innerchr1:12817106..12838434hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3821326
hg1921329
hg1821329
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv130n54
Supporting Variantsnssv710148, nssv710149
Samples
Known GenesHNRNPCL1, LOC649330
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545506
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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