A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580810



Internal ID18879091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130004371..130117291hg38UCSC Ensembl
Innerchr2:130761944..130874864hg19UCSC Ensembl
Innerchr2:130478414..130591334hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38112921
hg19112921
hg18112921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000906
Supporting Variants
Samples
Known GenesFAR2P1, POTEF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3580810
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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