A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207725



Internal ID22356071
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14293914, nssv14293916, nssv14293913, nssv14293918, nssv14293920, nssv14293915, nssv14293921, nssv14293917, nssv14293919
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSFTPB
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207725
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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