A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970613



Internal ID18259149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152379212..152389795hg38UCSC Ensembl
Innerchr7:152076297..152086880hg19UCSC Ensembl
Innerchr7:151707230..151717813hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3810584
hg1910584
hg1810584
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2486779, nssv2486781, nssv2486777, nssv2486784, nssv2486785, nssv2486782, nssv2486776, nssv2486780, nssv2486783, nssv2486778
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesKMT2C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970613
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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