A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130817



Internal ID19284723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:54550104..54550199hg38UCSC Ensembl
Outerchr4:55416271..55416366hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967515
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130817
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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