A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3483730



Internal ID19071371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148893214..148996591hg38UCSC Ensembl
Innerchr1:144887881..144991278hg19UCSC Ensembl
Innerchr1:143599238..143702635hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38103378
hg19103398
hg18103398
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999753
Supporting Variants
Samples
Known GenesLOC100288142, NBPF12, NBPF9, PDE4DIP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3483730
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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