A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6500932



Internal ID20874162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:148962..213841hg38UCSC Ensembl
chr17:1..63632hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3864880
hg1963632
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187294
Samples
Known GenesDOC2B, LOC100506371, RPH3AL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6500932
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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