A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124369



Internal ID19264971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:116293824..116293877hg38UCSC Ensembl
Outerchr8:117306059..117306115hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3854
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975668, nssv3958801
SamplesKWS2, KWS1
Known GenesLINC00536
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124369
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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