A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5936090



Internal ID22711440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123460052..123460465hg38UCSC Ensembl
chr12:123944599..123945012hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362036
Samples
Known GenesSNRNP35
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5936090
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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