A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136076



Internal ID18915842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:37752728..37753428hg38UCSC Ensembl
Outerchr1:38218400..38219100hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989681
SamplesKWS2
Known GenesEPHA10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136076
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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