A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3497209



Internal ID19084850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148639403..148797370hg38UCSC Ensembl
Innerchr1:145086995..145249507hg19UCSC Ensembl
Innerchr1:143798352..143960864hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38157968
hg19162513
hg18162513
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013404
Supporting Variants
Samples
Known GenesLOC100288142, NBPF12, NBPF9, NOTCH2NL, SEC22B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3497209
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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