A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1154058



Internal ID18849693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141632251..142199943hg38UCSC Ensembl
Outerchr5:141011818..141579508hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38567693
hg19567691
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4003334
SamplesKWB1
Known GenesARAP3, FCHSD1, GNPDA1, HDAC3, KIAA0141, LOC729080, NDFIP1, PCDH1, PCDH12, RELL2, RNF14
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1154058
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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