A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147654



Internal ID19203236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:69626177..69626239hg38UCSC Ensembl
Outerchr8:70538412..70538474hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996442
SamplesKWB1
Known GenesSULF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147654
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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