A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3577249



Internal ID18528844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:61872503..61972765hg38UCSC Ensembl
Innerchr2:62099638..62199900hg19UCSC Ensembl
Innerchr2:61953142..62053404hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38100263
hg19100263
hg18100263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009446
Supporting Variants
Samples
Known GenesCCT4, COMMD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3577249
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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