A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973133



Internal ID18608348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:127773747..127774665hg38UCSC Ensembl
Innerchr12:128258292..128259210hg19UCSC Ensembl
Innerchr12:126824245..126825163hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38919
hg19919
hg18919
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1948164, nssv1948157, nssv1948166, nssv1948163, nssv1948160, nssv1948161, nssv1948158, nssv1948165, nssv1948162, nssv1948159
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)nsv973133
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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