A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17481993



Internal ID22539898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202787797..202793983hg38UCSC Ensembl
chr2:203652520..203658706hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg386187
hg196187
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832425
Supporting Variants
Samples
Known GenesICA1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17481993
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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