A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975489



Internal ID18264011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52241423..52246021hg38UCSC Ensembl
Innerchr12:52635207..52639805hg19UCSC Ensembl
Innerchr12:50921474..50926072hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384599
hg194599
hg184599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1929255, nssv1929249, nssv1929258, nssv1929254, nssv1929256, nssv1929250, nssv1929257, nssv1929251, nssv1929252, nssv1929253
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKRT7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975489
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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