A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214934



Internal ID20781974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71360001..71419000hg38UCSC Ensembl
chr5:70655828..70714827hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3859000
hg1959000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6402891
Supporting Variants
Samples
Known GenesPMCHL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214934
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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