A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6512152



Internal ID20885483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53635801..53636800hg38UCSC Ensembl
chr16:53669713..53670712hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18030085
Samples
Known GenesRPGRIP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6512152
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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