A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947436



Internal ID18594284
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2764354
SamplesHGDP00998
Known GenesAGL
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947436
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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