A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961491



Internal ID19222530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237128457..237131757hg38UCSC Ensembl
Outerchr2:238037100..238040400hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383301
hg193301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128823
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961491
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