A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130499



Internal ID18905105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:382731..382824hg38UCSC Ensembl
Outerchr5:382846..382939hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3012n106
Supporting Variantsnssv3966810
SamplesKWS2
Known GenesAHRR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130499
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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