A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992949



Internal ID18887576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:139564858..139570758hg38UCSC Ensembl
Outerchr3:139283700..139289600hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg385901
hg195901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141443
Supporting Variants
SamplesKWS2
Known GenesNMNAT3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992949
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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