A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6502937



Internal ID20876186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29564843..29589650hg38UCSC Ensembl
chr17:27891861..27916668hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3824808
hg1924808
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188840
Samples
Known GenesABHD15, GIT1, TP53I13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6502937
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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