A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2173143



Internal ID17860658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:63684308..63689779hg38UCSC Ensembl
Innerchr2:63911442..63916913hg19UCSC Ensembl
Innerchr2:63764946..63770417hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg385472
hg195472
hg185472
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961781
Supporting Variants
SamplesHGDP01284
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)nssv2173143
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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