A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187523



Internal ID20754563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48306001..48361000hg38UCSC Ensembl
chr12:48699784..48754783hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3855000
hg1955000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6463187
Supporting Variants
Samples
Known GenesH1FNT, ZNF641
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187523
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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