A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5465251



Internal ID243117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:67747973..67748027hg38UCSC Ensembl
chr4:68613691..68613745hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16949510
Samples
Known GenesGNRHR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5465251
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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