A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997751



Internal ID20564791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121465601..121467700hg38UCSC Ensembl
chr12:121903404..121905503hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6485163
Supporting Variants
Samples
Known GenesKDM2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997751
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.08068


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