A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3972503



Internal ID18858675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:173608292..173609237hg38UCSC Ensembl
Outerchr5:173035295..173036240hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38946
hg19946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1134622
Supporting Variants
SamplesKWS1
Known GenesBOD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3972503
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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