A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16953722



Internal ID36496
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 StatusS
Merged Variantsnsv5458304
Supporting Variants
Samples
Known GenesDMP1, DSPP, HSD17B11, HSD17B13, KLHL8, MIR5705, NUDT9, SPARCL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16953722
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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