A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994238



Internal ID18863028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3070136..3070836hg38UCSC Ensembl
Outerchr1:2986700..2987400hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142739
Supporting Variants
SamplesKWS1
Known GenesPRDM16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994238
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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