A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545202



Internal ID16332611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6005366..6006560hg38UCSC Ensembl
Innerchr1:6065426..6066620hg19UCSC Ensembl
Innerchr1:5988013..5989207hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381195
hg191195
hg181195
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv70n54
Supporting Variantsnssv708997
Samples
Known GenesKCNAB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545202
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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