A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2761622



Internal ID17453882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108774461..108781499hg38UCSC Ensembl
Innerchr1:109317083..109324121hg19UCSC Ensembl
Innerchr1:109118606..109125644hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg387039
hg197039
hg187039
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947442
Supporting Variants
SamplesHGDP00778
Known GenesSTXBP3
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2761622
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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