A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947435



Internal ID18594283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:90977177..90982149hg38UCSC Ensembl
Innerchr1:91442734..91447706hg19UCSC Ensembl
Innerchr1:91215322..91220294hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg384973
hg194973
hg184973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2765039
SamplesHGDP00998
Known GenesZNF644
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947435
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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