A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18132109



Internal ID20699149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64756111..64759394hg38UCSC Ensembl
chr5:64051938..64055221hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg383284
hg193284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6403238
Supporting Variants
Samples
Known GenesSREK1IP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18132109
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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