A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6472031



Internal ID21129584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:60800..216950hg38UCSC Ensembl
chr12:169966..326116hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38156151
hg19156151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001660
Samples
Known GenesIQSEC3, LOC574538, SLC6A12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6472031
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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