A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964082



Internal ID43371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31292866..31292875hg38UCSC Ensembl
chr5:31292973..31292982hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5544109
Supporting Variants
Samples
Known GenesCDH6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964082
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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