A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943400



Internal ID22718849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124791720..124793456hg38UCSC Ensembl
chr12:125276266..125278002hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381737
hg191737
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353995
Samples
Known GenesSCARB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943400
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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