A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6333734



Internal ID20866914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217660137..217729522hg38UCSC Ensembl
chr1:217833479..217902864hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3869386
hg1969386
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200582
Samples
Known GenesSPATA17
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6333734
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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