A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6412716



Internal ID21070269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137116388..137126506hg38UCSC Ensembl
chr5:136452077..136462195hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3810119
hg1910119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18215035
Samples
Known GenesSPOCK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6412716
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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