A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500265



Internal ID277204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26214137..26214237hg38UCSC Ensembl
chr12:26367070..26367170hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055435
Samples
Known GenesSSPN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500265
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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