A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548742



Internal ID16336151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196370525..196422736hg38UCSC Ensembl
Innerchr1:196339655..196391866hg19UCSC Ensembl
Innerchr1:194606278..194658489hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3852212
hg1952212
hg1852212
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv733934
Samples
Known GenesKCNT2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548742
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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