A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18130875



Internal ID20697915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31324001..31325200hg38UCSC Ensembl
chr5:31324108..31325307hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6388367
Supporting Variants
Samples
Known GenesCDH6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18130875
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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