A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2175266



Internal ID17769863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:65665921..65670565hg38UCSC Ensembl
Innerchr2:65893055..65897699hg19UCSC Ensembl
Innerchr2:65746559..65751203hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg384645
hg194645
hg184645
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961785
Supporting Variants
SamplesHGDP00542
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)nssv2175266
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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