A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961558



Internal ID18596804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:215804612..215805319hg38UCSC Ensembl
Innerchr2:216669335..216670042hg19UCSC Ensembl
Innerchr2:216377580..216378287hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38708
hg19708
hg18708
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2221147, nssv2221146, nssv2221148, nssv2221149, nssv2221154, nssv2221152, nssv2221150, nssv2221153, nssv2221155, nssv2221151
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLINC00607
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961558
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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