A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18020478



Internal ID20587518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60165201..60165700hg38UCSC Ensembl
chr14:60631919..60632418hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6493243
Supporting Variants
Samples
Known GenesDHRS7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18020478
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00019


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