A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997445



Internal ID18842406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177396447..177396634hg38UCSC Ensembl
Outerchr5:176823448..176823635hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148657
Supporting Variants
SamplesKWB1
Known GenesSLC34A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997445
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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