A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv956084



Internal ID17304957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:17552593..17552679hg38UCSC Ensembl
Outerchr8:17410102..17410188hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001167
SamplesBILGI_BIOE
Known GenesSLC7A2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv956084
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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