A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012623



Internal ID19101840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130024177..130149761hg38UCSC Ensembl
Innerchr2:130781750..130907334hg19UCSC Ensembl
Innerchr2:130498220..130623804hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38125585
hg19125585
hg18125585
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4072n100
Supporting Variantsnssv3729232
Samples
Known GenesCCDC74B, FAR2P1, MED15P9, POTEF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012623
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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