A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143136



Internal ID19256106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:74688136..74688247hg38UCSC Ensembl
Outerchr5:73983961..73984072hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962113, nssv3979989
SamplesKWS2, KWS1
Known GenesHEXB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143136
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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