A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17444508



Internal ID22502378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:63784658..63787190hg38UCSC Ensembl
chr6:64494551..64497083hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg382533
hg192533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5892761
Supporting Variants
Samples
Known GenesEYS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17444508
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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