A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128495



Internal ID19270962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:198034470..198037870hg38UCSC Ensembl
Outerchr1:198003600..198007000hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383401
hg193401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv249n106
Supporting Variantsnssv3960376
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128495
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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