A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976624



Internal ID18611830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52884974..52892329hg38UCSC Ensembl
Innerchr12:53278758..53286113hg19UCSC Ensembl
Innerchr12:51565025..51572380hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg387356
hg197356
hg187356
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1931221, nssv1931228, nssv1931222, nssv1931226, nssv1931223, nssv1931230, nssv1931225, nssv1931227, nssv1931224, nssv1931229
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)nsv976624
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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