A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580825



Internal ID18879106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130010065..130147339hg38UCSC Ensembl
Innerchr2:130767638..130904912hg19UCSC Ensembl
Innerchr2:130484108..130621382hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38137275
hg19137275
hg18137275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1008624
Supporting Variants
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)nssv3580825
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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