A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17500241



Internal ID22558178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:101456344..101459713hg38UCSC Ensembl
chr6:101904220..101907589hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg383370
hg193370
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5843332
Supporting Variants
Samples
Known GenesGRIK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17500241
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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