A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14293909



Internal ID22202060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85610671..85611052hg38UCSC Ensembl
chr2:85837794..85838175hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195098
Supporting Variants
SamplesHG00732
Known GenesC2orf68, USP39
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14293909
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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