A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126854



Internal ID19248611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:47303501..47306542hg38UCSC Ensembl
Outerchr8:48226600..48230600hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg383042
hg194001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985130
SamplesKWS1
Known GenesSPIDR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126854
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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