A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2203317



Internal ID17785198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128517370..128520450hg38UCSC Ensembl
Innerchr2:129274944..129278024hg19UCSC Ensembl
Innerchr2:128991414..128994494hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg383081
hg193081
hg183081
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961507
Supporting Variants
SamplesHGDP00665
Known Genes
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)nssv2203317
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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