A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv925264



Internal ID15872534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:166411477..166516045hg38UCSC Ensembl
Innerchr2:167267987..167372555hg19UCSC Ensembl
Innerchr2:166976233..167080801hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38104569
hg19104569
hg18104569
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv583586
Supporting Variants
Samples
Known GenesSCN7A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv925264
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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