A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966889



Internal ID18602118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:131242692..131243291hg38UCSC Ensembl
Innerchr7:130927451..130928050hg19UCSC Ensembl
Innerchr7:130577991..130578590hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38600
hg19600
hg18600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2477972, nssv2477974, nssv2477975, nssv2477973, nssv2477981, nssv2477978, nssv2477979, nssv2477976, nssv2477977, nssv2477980
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMKLN1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966889
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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