A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973107



Internal ID18261636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:100152036..100177048hg38UCSC Ensembl
Innerchr12:100545814..100570826hg19UCSC Ensembl
Innerchr12:99069945..99094957hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3825013
hg1925013
hg1825013
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1942642, nssv1942645, nssv1942641, nssv1942639, nssv1942646, nssv1942644, nssv1942640, nssv1942648, nssv1942647, nssv1942643
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGOLGA2P5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973107
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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