A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3502026



Internal ID18800307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148933520..148988777hg38UCSC Ensembl
Innerchr1:144895697..144950969hg19UCSC Ensembl
Innerchr1:143607054..143662326hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3855258
hg1955273
hg1855273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006036
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)nssv3502026
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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