A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6501789



Internal ID20875026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15400904..15590418hg38UCSC Ensembl
chr17:15304221..15493732hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38189515
hg19189512
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180989
Samples
Known GenesCDRT1, CDRT4, TVP23C, TVP23C-CDRT4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6501789
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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