A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6506694



Internal ID20879978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:10615797..10787245hg38UCSC Ensembl
chr17:10519114..10690562hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38171449
hg19171449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186243
Samples
Known GenesADPRM, MAGOH2, MYH3, SCO1, TMEM220, TMEM220-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6506694
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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