A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124873



Internal ID18938412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:111556653..111561153hg38UCSC Ensembl
Outerchr3:111275500..111280000hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg384501
hg194501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977678
SamplesKWS2
Known GenesCD96
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124873
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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