A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890871



Internal ID168087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155545762..155549384hg38UCSC Ensembl
chr1:155515553..155519175hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg383623
hg193623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416421
Supporting Variants
Samples
Known GenesASH1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890871
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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