A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2162941



Internal ID17887692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:4513837..4515284hg38UCSC Ensembl
Innerchr2:4561427..4562874hg19UCSC Ensembl
Innerchr2:4539302..4540749hg18UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg381448
hg191448
hg181448
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961375
Supporting Variants
SamplesHGDP01307
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)nssv2162941
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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