A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2305532



Internal ID17804439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:170494767..170497193hg38UCSC Ensembl
Innerchr3:170212556..170214982hg19UCSC Ensembl
Innerchr3:171695250..171697676hg18UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg382427
hg192427
hg182427
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967091
Supporting Variants
SamplesHGDP00778
Known GenesSLC7A14
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)nssv2305532
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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