A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970516



Internal ID18605738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:66597803..66599560hg38UCSC Ensembl
Innerchr7:66062790..66064547hg19UCSC Ensembl
Innerchr7:65700225..65701982hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg381758
hg191758
hg181758
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2459544, nssv2459539, nssv2459541, nssv2459540, nssv2459542, nssv2459538, nssv2459536, nssv2459545, nssv2459537, nssv2459543
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970516
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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