A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17485534



Internal ID22543445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43885205..43908536hg38UCSC Ensembl
chr2:44112344..44135675hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3823332
hg1923332
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5833348
Supporting Variants
Samples
Known GenesLRPPRC
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17485534
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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