A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6498918



Internal ID20872132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12857541..13010336hg38UCSC Ensembl
chr17:12760858..12913653hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38152796
hg19152796
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184710
Samples
Known GenesARHGAP44, ELAC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6498918
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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