A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892673



Internal ID169293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11481384..11483143hg38UCSC Ensembl
chr1:11541441..11543200hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381760
hg191760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416837
Supporting Variants
Samples
Known GenesPTCHD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892673
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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