A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17487295



Internal ID22545211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135559139..135566584hg38UCSC Ensembl
chr2:136316709..136324154hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg387446
hg197446
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5831314
Supporting Variants
Samples
Known GenesR3HDM1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17487295
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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