A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3963295



Internal ID18893030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:382722..382831hg38UCSC Ensembl
Outerchr5:382837..382946hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1120850
Supporting Variants
SamplesKWS2
Known GenesAHRR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3963295
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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