A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901108



Internal ID1547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23780248..23781965hg38UCSC Ensembl
chr1:24106738..24108455hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg381718
hg191718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428364
Supporting Variants
Samples
Known GenesPITHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901108
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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