A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18126319



Internal ID20693359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137149491..137160677hg38UCSC Ensembl
chr5:136485180..136496366hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3811187
hg1911187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6408639
Supporting Variants
Samples
Known GenesSPOCK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18126319
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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