A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2791602



Internal ID21236940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124840025..124840025hg38UCSC Ensembl
chr12:125324571..125324571hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13692433, nssv13691298
Samples
Known GenesSCARB1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2791602
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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