A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6508385



Internal ID20881684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:10175147..10363519hg38UCSC Ensembl
chr17:10078464..10266836hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38188373
hg19188373
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192703
Samples
Known GenesGAS7, MYH13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6508385
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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