A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473127



Internal ID21130680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28241201..28449500hg38UCSC Ensembl
chr12:28394134..28602433hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38208300
hg19208300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000145
Samples
Known GenesCCDC91
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473127
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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