A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17380120



Internal ID22437990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64512393..64512393hg38UCSC Ensembl
chr1:64978076..64978076hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5950864
Supporting Variants
Samples
Known GenesCACHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17380120
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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