A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008624



Internal ID19097841
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 StatusM
Merged Variantsdgv4072n100
Supporting Variantsnssv3580825
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)nsv1008624
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer