A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18134851



Internal ID20701891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88727701..88728200hg38UCSC Ensembl
chr5:88023518..88024017hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6415143
Supporting Variants
Samples
Known GenesMEF2C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18134851
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00119


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