A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6397304



Internal ID21054857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:118961555..118975817hg38UCSC Ensembl
chr5:118297250..118311512hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3814263
hg1914263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18123601
Samples
Known GenesDTWD2, MIR1244-1, MIR1244-2, MIR1244-3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6397304
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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