A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3955497



Internal ID18864984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:11488890..11488947hg38UCSC Ensembl
Outerchr2:11629016..11629073hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116364
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3955497
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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