A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17144869



Internal ID21421044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88736195..88736524hg38UCSC Ensembl
chr5:88032012..88032341hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5576869
Supporting Variants
SamplesHG00731
Known GenesMEF2C
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17144869
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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