A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199285



Internal ID20766325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112702717..112768880hg38UCSC Ensembl
chr1:113245339..113311502hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3866164
hg1966164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326241
Supporting Variants
Samples
Known GenesFAM19A3, PPM1J, RHOC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199285
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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