A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979098



Internal ID18614301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111765096..111802855hg38UCSC Ensembl
Innerchr2:112522673..112560432hg19UCSC Ensembl
Innerchr2:112239144..112276903hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3837760
hg1937760
hg1837760
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2196846, nssv2196850, nssv2196842, nssv2196844, nssv2196847, nssv2196845, nssv2196843, nssv2196851, nssv2196849, nssv2196848
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANAPC1, MIR4771-1, MIR4771-2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979098
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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