A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908498



Internal ID6455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7414991..7442216hg38UCSC Ensembl
chr1:7475051..7502276hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3827226
hg1927226
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415280
Supporting Variants
Samples
Known GenesCAMTA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908498
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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