A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987612



Internal ID18869069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3181588..3181645hg38UCSC Ensembl
Outerchr1:3098152..3098209hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132819
Supporting Variants
SamplesKWS1
Known GenesPRDM16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987612
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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