A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583114



Internal ID16370523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130181715..130391244hg38UCSC Ensembl
Innerchr2:130939288..131148817hg19UCSC Ensembl
Innerchr2:130655758..130865287hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38209530
hg19209530
hg18209530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7079n54
Supporting Variantsnssv920030
Samples
Known GenesCCDC115, IMP4, MZT2B, PTPN18, SMPD4, TUBA3E
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583114
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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