A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18133403



Internal ID20700443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79123735..79129031hg38UCSC Ensembl
chr5:78419558..78424854hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg385297
hg195297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6414504
Supporting Variants
Samples
Known GenesBHMT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18133403
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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