A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2763412



Internal ID17830384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:172450446..172455770hg38UCSC Ensembl
Innerchr1:172419586..172424910hg19UCSC Ensembl
Innerchr1:170686209..170691533hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg385325
hg195325
hg185325
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947449
Supporting Variants
SamplesHGDP00998
Known GenesC1orf105
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2763412
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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