A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112885



Internal ID18904251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:134114709..134115309hg38UCSC Ensembl
Outerchr5:133450400..133451000hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967385
SamplesKWS2
Known GenesTCF7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112885
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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