A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3995090



Internal ID19206096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:5225233..5225303hg38UCSC Ensembl
Outerchr1:5285293..5285363hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144343
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3995090
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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