A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18123581



Internal ID20690621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:118771192..119627471hg38UCSC Ensembl
chr5:118106887..118963166hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38856280
hg19856280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6404746
Supporting Variants
Samples
Known GenesDMXL1, DTWD2, HSD17B4, MIR1244-1, MIR1244-2, MIR1244-3, TNFAIP8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18123581
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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