A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339273



Internal ID20996826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232338996..232449763hg38UCSC Ensembl
chr2:233203706..233314473hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38110768
hg19110768
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18086636
Samples
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339273
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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