A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973128



Internal ID18261657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120197656..120199442hg38UCSC Ensembl
Innerchr12:120635459..120637245hg19UCSC Ensembl
Innerchr12:119119842..119121628hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381787
hg191787
hg181787
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1946278, nssv1946281, nssv1946274, nssv1946273, nssv1946277, nssv1946280, nssv1946279, nssv1946276, nssv1946275, nssv1946272
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPLP0
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973128
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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