A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18134471



Internal ID20701511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76280697..76284177hg38UCSC Ensembl
chr5:75576522..75580002hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg383481
hg193481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6399447
Supporting Variants
Samples
Known GenesSV2C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18134471
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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