A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407867



Internal ID22465737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60976565..61000114hg38UCSC Ensembl
chr2:61203700..61227249hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3823550
hg1923550
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5885360
Supporting Variants
Samples
Known GenesPUS10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407867
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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