A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2174800



Internal ID17422541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70803619..70808943hg38UCSC Ensembl
Innerchr2:71030751..71036075hg19UCSC Ensembl
Innerchr2:70884259..70889583hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg385325
hg195325
hg185325
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961788
Supporting Variants
SamplesHGDP00542
Known GenesCLEC4F
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)nssv2174800
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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