A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17453859



Internal ID22511734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155222773..155235203hg38UCSC Ensembl
chr1:155192564..155204994hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3812431
hg1912431
Variant TypeOTHER copy number variation
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5828041
Supporting Variants
Samples
Known GenesGBA, GBAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17453859
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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