A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047340



Internal ID99405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46466360..46477952hg38UCSC Ensembl
chr11:46487910..46499502hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3811593
hg1911593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505509
Supporting Variants
Samples
Known GenesAMBRA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047340
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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