A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2179892



Internal ID17506036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:85543439..85545146hg38UCSC Ensembl
Innerchr2:85770562..85772269hg19UCSC Ensembl
Innerchr2:85624073..85625780hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381708
hg191708
hg181708
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961801
Supporting Variants
SamplesHGDP01029
Known GenesGGCX, MAT2A
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)nssv2179892
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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