A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2171073



Internal ID17836273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53754987..53762497hg38UCSC Ensembl
Innerchr2:53982124..53989634hg19UCSC Ensembl
Innerchr2:53835628..53843138hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg387511
hg197511
hg187511
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979005
Supporting Variants
SamplesHGDP00998
Known GenesASB3, GPR75-ASB3
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)nssv2171073
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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