A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6496529



Internal ID20869732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44218101..44224900hg38UCSC Ensembl
chr17:42295469..42302268hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg386800
hg196800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182379
Samples
Known GenesUBTF
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6496529
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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