A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207056



Internal ID20774096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74645014..74781337hg38UCSC Ensembl
chr2:74872141..75008464hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38136324
hg19136324
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6354900
Supporting Variants
Samples
Known GenesM1AP, SEMA4F
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207056
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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