A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894685



Internal ID170627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201823993..201824018hg38UCSC Ensembl
chr1:201793121..201793146hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553660
Supporting Variants
Samples
Known GenesIPO9-AS1, NAV1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894685
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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