A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967369



Internal ID19230867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:14871591..14872291hg38UCSC Ensembl
Outerchr5:14871700..14872400hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112869
Supporting Variants
SamplesKWS2
Known GenesANKH
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967369
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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