A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1109969



Internal ID18932960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:48727151..48727232hg38UCSC Ensembl
Outerchr8:49639710..49639791hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958421
SamplesKWS1
Known GenesEFCAB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1109969
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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