A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18128693



Internal ID20695733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151245914..151331224hg38UCSC Ensembl
chr5:150625475..150710785hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3885311
hg1985311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6396610
Supporting Variants
Samples
Known GenesGM2A, SLC36A2, SLC36A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18128693
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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