A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547960



Internal ID15988683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154865320..154932364hg38UCSC Ensembl
Innerchr1:154837796..154904840hg19UCSC Ensembl
Innerchr1:153104420..153171464hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3867045
hg1967045
hg1867045
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173207
SamplesHGDP00857
Known GenesKCNN3, PMVK
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547960
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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