A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14293919



Internal ID22256872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85660151..85670450hg38UCSC Ensembl
chr2:85887274..85897573hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3810300
hg1910300
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207725
Supporting Variants
SamplesNA19238
Known GenesSFTPB
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14293919
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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