A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17462427



Internal ID22520312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28925951..28928002hg38UCSC Ensembl
chr1:29252463..29254514hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg382052
hg192052
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5829979
Supporting Variants
Samples
Known GenesEPB41
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17462427
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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