A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550096



Internal ID323691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173916083..173916116hg38UCSC Ensembl
chr1:173885221..173885254hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891702
Samples
Known GenesSERPINC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550096
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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