A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992632



Internal ID18898721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3335936..3338136hg38UCSC Ensembl
Outerchr1:3252500..3254700hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg382201
hg192201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141125
Supporting Variants
SamplesKWS2
Known GenesPRDM16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992632
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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