A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17493187



Internal ID22551116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49914381..49921606hg38UCSC Ensembl
chr3:49951814..49959039hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg387226
hg197226
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5836603
Supporting Variants
Samples
Known GenesMON1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17493187
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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