A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115117



Internal ID18901326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:96787835..96787903hg38UCSC Ensembl
Outerchr8:97800063..97800131hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976168, nssv3958791
SamplesKWS1, KWS2
Known GenesCPQ
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115117
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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