A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18131705



Internal ID20698745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54669148..54674525hg38UCSC Ensembl
chr5:53964977..53970354hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg385378
hg195378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6409896
Supporting Variants
Samples
Known GenesLOC102467080
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18131705
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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