A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6514337



Internal ID20887690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32587125..32595507hg38UCSC Ensembl
chr17:30914143..30922525hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg388383
hg198383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18034960
Samples
Known GenesMYO1D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6514337
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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