A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975493



Internal ID18610701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52609187..52610882hg38UCSC Ensembl
Innerchr12:53002971..53004666hg19UCSC Ensembl
Innerchr12:51289238..51290933hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381696
hg191696
hg181696
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1930991, nssv1930992, nssv1930996, nssv1930997, nssv1930989, nssv1930995, nssv1930998, nssv1930994, nssv1930990, nssv1930993
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKRT73
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975493
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer