A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457751



Internal ID235788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37042182..37043277hg38UCSC Ensembl
chr5:37042284..37043379hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg381096
hg191096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16964364
Samples
Known GenesNIPBL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457751
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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