A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901514



Internal ID1815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40059014..40059014hg38UCSC Ensembl
chr1:40524686..40524686hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5400028
Supporting Variants
Samples
Known GenesCAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901514
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.155672


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