A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17045368



Internal ID98001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47639613..47640103hg38UCSC Ensembl
chr11:47661165..47661655hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38491
hg19491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494395
Supporting Variants
Samples
Known GenesMTCH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17045368
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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