A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2303330



Internal ID17783220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:160101248..160102859hg38UCSC Ensembl
Innerchr3:159819035..159820646hg19UCSC Ensembl
Innerchr3:161301729..161303340hg18UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg381612
hg191612
hg181612
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963371
Supporting Variants
SamplesHGDP00665
Known GenesIL12A-AS1
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)nssv2303330
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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