A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2764354



Internal ID17827716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:99882811..99889816hg38UCSC Ensembl
Innerchr1:100348367..100355372hg19UCSC Ensembl
Innerchr1:100120955..100127960hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg387006
hg197006
hg187006
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947436
Supporting Variants
SamplesHGDP00998
Known GenesAGL
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2764354
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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