A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001915



Internal ID19091132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94662150..94907728hg38UCSC Ensembl
Innerchr2:95327875..95573473hg19UCSC Ensembl
Innerchr2:94691602..94937200hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38245579
hg19245599
hg18245599
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729130
Samples
Known GenesANKRD20A8P, FAM95A, LOC442028, TEKT4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001915
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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