A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983314



Internal ID18271822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42117709..42119851hg38UCSC Ensembl
Innerchr12:42511511..42513653hg19UCSC Ensembl
Innerchr12:40797778..40799920hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382143
hg192143
hg182143
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1925677, nssv1925671, nssv1925676, nssv1925673, nssv1925680, nssv1925679, nssv1925674, nssv1925675, nssv1925672, nssv1925678
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGXYLT1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983314
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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