A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992934



Internal ID18892342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:49676267..49693067hg38UCSC Ensembl
Outerchr3:49713700..49730500hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3816801
hg1916801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141429
Supporting Variants
SamplesKWS2
Known GenesAPEH, MST1, RNF123
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992934
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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