A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17149912



Internal ID21468581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76551373..76551451hg38UCSC Ensembl
chr5:75847198..75847276hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5572961
Supporting Variants
SamplesHG03125
Known GenesIQGAP2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17149912
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer