A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6496908



Internal ID20870111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48364600..48366397hg38UCSC Ensembl
chr16:48398511..48400308hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381798
hg191798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18029908
Samples
Known GenesMIR548AE2, SIAH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6496908
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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