A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001969



Internal ID19091186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148598832..148804379hg38UCSC Ensembl
Innerchr1:145079984..145290292hg19UCSC Ensembl
Innerchr1:143791341..144001649hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38205548
hg19210309
hg18210309
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv328n100
Supporting Variantsnssv3483232
Samples
Known GenesLOC100288142, LOC101929780, 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)nsv1001969
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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