A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580831



Internal ID18532426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130091652..130400286hg38UCSC Ensembl
Innerchr2:130849225..131157859hg19UCSC Ensembl
Innerchr2:130565695..130874329hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38308635
hg19308635
hg18308635
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1010826
Supporting Variants
Samples
Known GenesCCDC115, CCDC74B, IMP4, MED15P9, MZT2B, POTEF, PTPN18, SMPD4, TUBA3E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3580831
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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