A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6412622



Internal ID21070175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:57117269..57232124hg38UCSC Ensembl
chr5:56413096..56527951hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38114856
hg19114856
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214082
Samples
Known GenesGPBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6412622
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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