A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14304227



Internal ID22306584
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209688
Supporting Variants
SamplesNA19240
Known GenesUBE2G1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14304227
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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