A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6495931



Internal ID20869127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39967102..39971707hg38UCSC Ensembl
chr17:38123355..38127960hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg384606
hg194606
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186731
Samples
Known GenesGSDMA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6495931
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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