A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17041699



Internal ID95505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:6477854..6488476hg38UCSC Ensembl
chr11:6499084..6509706hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3810623
hg1910623
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505287
Supporting Variants
Samples
Known GenesARFIP2, TIMM10B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17041699
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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