A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580821



Internal ID18879102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130010065..130117291hg38UCSC Ensembl
Innerchr2:130767638..130874864hg19UCSC Ensembl
Innerchr2:130484108..130591334hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38107227
hg19107227
hg18107227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1001055
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)nssv3580821
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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