A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973075



Internal ID18261604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56106326..56113947hg38UCSC Ensembl
Innerchr12:56500110..56507731hg19UCSC Ensembl
Innerchr12:54786377..54793998hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg387622
hg197622
hg187622
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1932825, nssv1932822, nssv1932824, nssv1932817, nssv1932823, nssv1932819, nssv1932816, nssv1932821, nssv1932818, nssv1932820
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPA2G4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973075
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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