A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121867



Internal ID18928468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:111114853..111115953hg38UCSC Ensembl
Outerchr13:111767200..111768300hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968525
SamplesKWS2
Known GenesARHGEF7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121867
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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