A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970974



Internal ID18259510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152363342..152379212hg38UCSC Ensembl
Innerchr7:152060427..152076297hg19UCSC Ensembl
Innerchr7:151691360..151707230hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3815871
hg1915871
hg1815871
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2488527, nssv2488523, nssv2488521, nssv2488520, nssv2488524, nssv2488526, nssv2488519, nssv2488522, nssv2488528, nssv2488525
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)nsv970974
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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