A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975519



Internal ID18610727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:89500650..89502384hg38UCSC Ensembl
Innerchr12:89894427..89896161hg19UCSC Ensembl
Innerchr12:88418558..88420292hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg381735
hg191735
hg181735
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1940547, nssv1940546, nssv1940553, nssv1940550, nssv1940551, nssv1940552, nssv1940544, nssv1940548, nssv1940545, nssv1940549
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPOC1B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975519
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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