A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17486365



Internal ID22544279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12994060..13001451hg38UCSC Ensembl
chr2:13134185..13141576hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg387392
hg197392
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5831235
Supporting Variants
Samples
Known GenesLOC100506474
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17486365
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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