A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970936



Internal ID18606158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:125297780..125301897hg38UCSC Ensembl
Innerchr7:124937834..124941951hg19UCSC Ensembl
Innerchr7:124725070..124729187hg18UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg384118
hg194118
hg184118
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2475421, nssv2475414, nssv2475422, nssv2475415, nssv2475417, nssv2475420, nssv2475416, nssv2475423, nssv2475418, nssv2475419
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)nsv970936
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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