A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965199



Internal ID18253747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:112928963..112929463hg38UCSC Ensembl
Innerchr3:112647810..112648310hg19UCSC Ensembl
Innerchr3:114130500..114131000hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2291148, nssv2291147, nssv2291151, nssv2291150, nssv2291153, nssv2291146, nssv2291145, nssv2291152, nssv2291149, nssv2291154
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCD200R1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965199
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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