A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976432



Internal ID19235198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:232754554..232761054hg38UCSC Ensembl
Outerchr1:232890300..232896800hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg386501
hg196501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115382
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976432
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