A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979040



Internal ID18267557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87719009..87759833hg38UCSC Ensembl
Innerchr2:88018528..88059352hg19UCSC Ensembl
Innerchr2:87799643..87840467hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3840825
hg1940825
hg1840825
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2180958, nssv2180960, nssv2180956, nssv2180962, nssv2180964, nssv2180963, nssv2180961, nssv2180955, nssv2180957, nssv2180959
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPLGLB1, PLGLB2, RGPD1, RGPD2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979040
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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