A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970973



Internal ID18259509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152273176..152293609hg38UCSC Ensembl
Innerchr7:151970261..151990694hg19UCSC Ensembl
Innerchr7:151601194..151621627hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3820434
hg1920434
hg1820434
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2488405, nssv2488413, nssv2488406, nssv2488407, nssv2488414, nssv2488412, nssv2488408, nssv2488410, nssv2488411, nssv2488409
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKMT2C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970973
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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