A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124346



Internal ID19256421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:60512555..60512617hg38UCSC Ensembl
Outerchr8:61425114..61425176hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975646
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124346
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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