A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121401



Internal ID18926473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:31713725..31714078hg38UCSC Ensembl
Outerchr8:31571241..31571594hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3803n106
Supporting Variantsnssv3965864, nssv3974301
SamplesKWS2, KWS1
Known GenesNRG1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121401
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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