A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3702101



Internal ID19000382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148780872..148879739hg38UCSC Ensembl
Innerchr1:145004743..145107641hg19UCSC Ensembl
Innerchr1:143716100..143818998hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3898868
hg19102899
hg18102899
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000151
Supporting Variants
Samples
Known GenesLOC100288142, NBPF12, NBPF9, PDE4DIP, SEC22B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3702101
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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