A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145050



Internal ID18925541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:2748486..2748786hg38UCSC Ensembl
Outerchr5:2748600..2748900hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981669
SamplesKWS1
Known GenesIRX2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145050
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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