A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961429



Internal ID18596675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86885198..86886426hg38UCSC Ensembl
Innerchr2:87112321..87113549hg19UCSC Ensembl
Innerchr2:86965832..86967060hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381229
hg191229
hg181229
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2181209, nssv2181205, nssv2181211, nssv2181204, nssv2180411, nssv2181208, nssv2181212, nssv2181210, nssv2181206, nssv2181207
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANAPC1P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961429
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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