A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148448



Internal ID19196896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:107361547..107361623hg38UCSC Ensembl
Outerchr8:108373775..108373851hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000484
SamplesKWB1
Known GenesANGPT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148448
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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