A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512635



Internal ID289185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2132065..2132140hg38UCSC Ensembl
chr11:2153295..2153370hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17040631
Samples
Known GenesIGF2, INS-IGF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512635
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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