A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2297868



Internal ID17804127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:177295502..177300237hg38UCSC Ensembl
Innerchr3:177013290..177018025hg19UCSC Ensembl
Innerchr3:178495984..178500719hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg384736
hg194736
hg184736
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963380
Supporting Variants
SamplesHGDP00778
Known GenesLINC00501
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)nssv2297868
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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