A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146907



Internal ID18851689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:112381822..112386023hg38UCSC Ensembl
Outerchr2:113139399..113143600hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg384202
hg194202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998269
SamplesKWB1
Known GenesRGPD5, RGPD8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146907
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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