A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3491726



Internal ID18732681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:150453465..150750307hg38UCSC Ensembl
Innerchr1:150425941..150722783hg19UCSC Ensembl
Innerchr1:148692565..148989407hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38296843
hg19296843
hg18296843
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006838
Supporting Variants
Samples
Known GenesADAMTSL4, ADAMTSL4-AS1, CTSS, ECM1, ENSA, GOLPH3L, HORMAD1, LINC00568, MCL1, MIR4257, MIR6878, RPRD2, TARS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3491726
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