A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115033



Internal ID19275751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:231733447..231733528hg38UCSC Ensembl
Outerchr1:231869193..231869274hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975335
SamplesKWS1
Known GenesDISC1, TSNAX-DISC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115033
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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