A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2277145



Internal ID17799821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:33189004..33192858hg38UCSC Ensembl
Innerchr3:33230496..33234350hg19UCSC Ensembl
Innerchr3:33205500..33209354hg18UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg383855
hg193855
hg183855
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979818
Supporting Variants
SamplesHGDP00778
Known GenesSUSD5
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)nssv2277145
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer