A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124334



Internal ID18922053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:32737726..32737780hg38UCSC Ensembl
Outerchr8:32595244..32595298hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975634
SamplesKWS2
Known GenesNRG1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124334
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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