A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951104



Internal ID16953291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:12049792..12195891hg38UCSC Ensembl
Outerchr8:11907301..12053400hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38146100
hg19146100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998698
SamplesBILGI_BIOE
Known GenesDEFB130, FAM66D, FAM86B1, FAM90A2P, LOC100133267, LOC392196, USP17L2, USP17L7, ZNF705D
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951104
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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