A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500844



Internal ID277767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2134488..2135135hg38UCSC Ensembl
chr11:2155718..2156365hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38648
hg19648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17043583
Samples
Known GenesIGF2, INS-IGF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500844
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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