A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125597



Internal ID20692637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:129756601..129758500hg38UCSC Ensembl
chr5:129092294..129094193hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6395785
Supporting Variants
Samples
Known GenesKIAA1024L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125597
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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