A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458304



Internal ID236333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87152087..87720944hg38UCSC Ensembl
chr4:88073239..88642096hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38568858
hg19568858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16953722
Samples
Known GenesDMP1, DSPP, HSD17B11, HSD17B13, KLHL8, MIR5705, NUDT9, SPARCL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458304
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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