A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2271555



Internal ID17886668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:10043463..10058274hg38UCSC Ensembl
Innerchr3:10085147..10099958hg19UCSC Ensembl
Innerchr3:10060147..10074958hg18UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3814812
hg1914812
hg1814812
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963293
Supporting Variants
SamplesHGDP01307
Known GenesFANCD2
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)nssv2271555
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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