A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973068



Internal ID18261597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52950527..52952866hg38UCSC Ensembl
Innerchr12:53344311..53346650hg19UCSC Ensembl
Innerchr12:51630578..51632917hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382340
hg192340
hg182340
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1931424, nssv1931415, nssv1931419, nssv1931420, nssv1931421, nssv1931422, nssv1931417, nssv1931423, nssv1931416, nssv1931418
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesKRT18
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973068
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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