A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976631



Internal ID18611837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59053081..59055701hg38UCSC Ensembl
Innerchr12:59446862..59449482hg19UCSC Ensembl
Innerchr12:57733129..57735749hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg382621
hg192621
hg182621
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1934993, nssv1934998, nssv1934989, nssv1934995, nssv1934992, nssv1934994, nssv1934990, nssv1934991, nssv1934997, nssv1934996
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976631
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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