A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977612



Internal ID52467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172419310..172420826hg38UCSC Ensembl
chr5:171846314..171847830hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg381517
hg191517
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556722
Supporting Variants
Samples
Known GenesSH3PXD2B
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977612
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00281


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