A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148657



Internal ID18848653
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 StatusM
Merged Variants
Supporting Variantsnssv3997445
SamplesKWB1
Known GenesSLC34A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148657
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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