A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6351038



Internal ID21008591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169420756..170042343hg38UCSC Ensembl
chr2:170277266..170898853hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38621588
hg19621588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18079971
Samples
Known GenesBBS5, CCDC173, FASTKD1, KLHL23, KLHL41, METTL5, PHOSPHO2, PHOSPHO2-KLHL23, PPIG, SSB, UBR3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6351038
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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