A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979229



Internal ID18614432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94788791..94797491hg38UCSC Ensembl
Innerchr2:95454536..95463236hg19UCSC Ensembl
Innerchr2:94818263..94826963hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg388701
hg198701
hg188701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2676698, nssv2676700, nssv2676694, nssv2676693, nssv2676691, nssv2676692, nssv2676695, nssv2676699, nssv2676697, nssv2676696
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD20A8P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979229
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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