A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979281



Internal ID18614484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132197356..132258020hg38UCSC Ensembl
Innerchr2:132954929..133015593hg19UCSC Ensembl
Innerchr2:132671399..132732063hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3860665
hg1960665
hg1860665
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2672659, nssv2672654, nssv2672661, nssv2672658, nssv2672655, nssv2672657, nssv2672662, nssv2672660, nssv2672656, nssv2672663
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD30BL, MIR663B
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979281
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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