A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5868064



Internal ID22642999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94690991..95007035hg38UCSC Ensembl
chr2:95356717..95672780hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38316045
hg19316064
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396102
Samples
Known GenesANKRD20A8P, FAM95A, LOC442028, TEKT4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5868064
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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