A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2765527



Internal ID17827596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178638625..178645032hg38UCSC Ensembl
Innerchr1:178607760..178614167hg19UCSC Ensembl
Innerchr1:176874383..176880790hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg386408
hg196408
hg186408
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947454
Supporting Variants
SamplesHGDP00998
Known Genes
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2765527
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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