A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15196372



Internal ID21335168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88747321..88747649hg38UCSC Ensembl
chr5:88043138..88043466hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3943362
Supporting Variants
SamplesHG002
Known GenesMEF2C
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15196372
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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