A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975490



Internal ID18610698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52433384..52434557hg38UCSC Ensembl
Innerchr12:52827168..52828341hg19UCSC Ensembl
Innerchr12:51113435..51114608hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381174
hg191174
hg181174
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1930571, nssv1930567, nssv1930564, nssv1930569, nssv1930568, nssv1930563, nssv1930570, nssv1930566, nssv1930562, nssv1930565
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKRT75
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975490
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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