A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970930



Internal ID18606152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:112520598..112522522hg38UCSC Ensembl
Innerchr7:112160653..112162577hg19UCSC Ensembl
Innerchr7:111947889..111949813hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg381925
hg191925
hg181925
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2475525, nssv2475527, nssv2475532, nssv2475534, nssv2475526, nssv2475530, nssv2475529, nssv2475533, nssv2475531, nssv2475528
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)nsv970930
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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