A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6467697



Internal ID21125250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101728501..101729500hg38UCSC Ensembl
chr12:102122279..102123278hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996720
Samples
Known GenesCHPT1, SYCP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6467697
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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