A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975452



Internal ID18610660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12153793..12157731hg38UCSC Ensembl
Innerchr12:12306727..12310665hg19UCSC Ensembl
Innerchr12:12197994..12201932hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg383939
hg193939
hg183939
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1918235, nssv1918241, nssv1918237, nssv1918240, nssv1918244, nssv1918238, nssv1918243, nssv1918239, nssv1918242, nssv1918236
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLRP6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975452
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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