A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17372958



Internal ID22598627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62247007..62247385hg38UCSC Ensembl
chr1:62712679..62713057hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38379
hg19379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5873962
Supporting Variants
Samples
Known GenesKANK4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17372958
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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