A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583584



Internal ID16024307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:166063920..166080902hg38UCSC Ensembl
Innerchr2:166920430..166937412hg19UCSC Ensembl
Innerchr2:166628676..166645658hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3816983
hg1916983
hg1816983
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151325
SamplesNINDS_99
Known GenesSCN1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583584
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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