A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2763173



Internal ID17833158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40189219..40193571hg38UCSC Ensembl
Innerchr1:40654891..40659243hg19UCSC Ensembl
Innerchr1:40427478..40431830hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg384353
hg194353
hg184353
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947427
Supporting Variants
SamplesHGDP00998
Known GenesRLF
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2763173
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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