A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892672



Internal ID169292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11479645..11479653hg38UCSC Ensembl
chr1:11539702..11539710hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg389
hg199
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559904
Supporting Variants
Samples
Known GenesPTCHD2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892672
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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