A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209688



Internal ID22357723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205957911..205958407hg38UCSC Ensembl
chr17:4174726..4175192hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38497
hg19467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14304227, nssv14304221, nssv14304222, nssv14304226, nssv14304225, nssv14304223, nssv14304224
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00513, HG00514
Known GenesUBE2G1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209688
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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