A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601880



Internal ID16042603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31387541..31489801hg38UCSC Ensembl
Innerchr6:31355318..31457578hg19UCSC Ensembl
Innerchr6:31463297..31565557hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38102261
hg19102261
hg18102261
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1053403, nssv1154268, nssv1053402
SamplesNINDS_191
Known GenesHCG26, HCP5, MICA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601880
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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