A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959478



Internal ID19215223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:57647517..57652217hg38UCSC Ensembl
Outerchr12:58041300..58046000hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg384701
hg194701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110209
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959478
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