A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv956048



Internal ID16958235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:120669458..120669807hg38UCSC Ensembl
Outerchr8:121681698..121682047hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001136
SamplesBILGI_BIOE
Known GenesSNTB1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv956048
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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