A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973134



Internal ID18608349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128942367..128944298hg38UCSC Ensembl
Innerchr12:129426912..129428843hg19UCSC Ensembl
Innerchr12:127992865..127994796hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381932
hg191932
hg181932
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1948255, nssv1948263, nssv1948260, nssv1948256, nssv1948258, nssv1948264, nssv1948262, nssv1948261, nssv1948257, nssv1948259
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGLT1D1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973134
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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