A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6502974



Internal ID20876223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16453250..16522031hg38UCSC Ensembl
chr17:16356564..16425345hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3868782
hg1968782
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180015
Samples
Known GenesFAM211A, FAM211A-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6502974
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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