A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961430



Internal ID18596676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86886426..86913819hg38UCSC Ensembl
Innerchr2:87113549..87140942hg19UCSC Ensembl
Innerchr2:86967060..86994453hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3827394
hg1927394
hg1827394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2181302, nssv2181307, nssv2181300, nssv2181301, nssv2181308, nssv2181306, nssv2181305, nssv2181303, nssv2181309, nssv2181304
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANAPC1P1, RGPD2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961430
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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