A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976626



Internal ID18611832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54231284..54232997hg38UCSC Ensembl
Innerchr12:54625068..54626781hg19UCSC Ensembl
Innerchr12:52911335..52913048hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381714
hg191714
hg181714
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1932748, nssv1932752, nssv1932751, nssv1932749, nssv1932753, nssv1932747, nssv1932754, nssv1932745, nssv1932746, nssv1932750
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCBX5, MIR3198-2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976626
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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