A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2180071



Internal ID17836157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86868970..86885198hg38UCSC Ensembl
Innerchr2:87096093..87112321hg19UCSC Ensembl
Innerchr2:86949604..86965832hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3816229
hg1916229
hg1816229
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv979032
Supporting Variants
SamplesHGDP00998
Known GenesANAPC1P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2180071
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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