A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122198



Internal ID19251643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:115667773..115669473hg38UCSC Ensembl
Outerchr8:116680000..116681700hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969641
SamplesKWS2
Known GenesTRPS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122198
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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