A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2295701



Internal ID17849242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125961987..125987093hg38UCSC Ensembl
Innerchr3:125680830..125705936hg19UCSC Ensembl
Innerchr3:127163520..127188626hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3825107
hg1925107
hg1825107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967059
Supporting Variants
SamplesHGDP01029
Known GenesROPN1B
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)nssv2295701
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