A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976594



Internal ID18265114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32723784..32727571hg38UCSC Ensembl
Innerchr12:32876718..32880505hg19UCSC Ensembl
Innerchr12:32767985..32771772hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg383788
hg193788
hg183788
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1923841, nssv1923837, nssv1923840, nssv1923839, nssv1923836, nssv1923838, nssv1924637, nssv1923842, nssv1923843, nssv1924636
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDNM1L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976594
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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