A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2221148



Internal ID17802933
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 StatusS
Merged Variantsnsv961558
Supporting Variants
SamplesHGDP00778
Known GenesLINC00607
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2221148
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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