A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583572



Internal ID16024295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165158204..165159737hg38UCSC Ensembl
Innerchr2:166014714..166016247hg19UCSC Ensembl
Innerchr2:165722960..165724493hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381534
hg191534
hg181534
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7155n54
Supporting Variantsnssv925227, nssv925224, nssv925235, nssv925212, nssv925198, nssv925234, nssv925222, nssv925215, nssv925192, nssv925214, nssv925209, nssv925206, nssv925231, nssv925223, nssv925221, nssv925200, nssv925237, nssv925229, nssv925238, nssv925217, nssv925193, nssv925194, nssv925226, nssv925218, nssv925210, nssv925190, nssv925189, nssv925219, nssv925228, nssv925239, nssv925242, nssv925220, nssv925236, nssv925208, nssv925201, nssv925213, nssv925199, nssv925225, nssv925232, nssv925233, nssv925191, nssv925188, nssv925196, nssv925241, nssv925230, nssv925240, nssv925205, nssv925195, nssv925211, nssv925203, nssv925216, nssv925197, nssv925207, nssv925202, nssv925204
Samples
Known GenesSCN3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583572
Frequency
Sample Size17421
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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