A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145067



Internal ID18927430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:91379383..91381483hg38UCSC Ensembl
Outerchr5:90675200..90677300hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg382101
hg192101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981686
SamplesKWS1
Known GenesARRDC3, ARRDC3-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145067
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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