A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891677



Internal ID168643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173335407..173338855hg38UCSC Ensembl
chr1:173304546..173307994hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg383449
hg193449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426580
Supporting Variants
Samples
Known GenesLOC100506023
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891677
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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