A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975447



Internal ID18263969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10430986..10434172hg38UCSC Ensembl
Innerchr12:10583585..10586771hg19UCSC Ensembl
Innerchr12:10474852..10478038hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg383187
hg193187
hg183187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1916090, nssv1916094, nssv1916095, nssv1916096, nssv1916093, nssv1916092, nssv1916097, nssv1916089, nssv1916091, nssv1916088
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesKLRC2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975447
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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