A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002736



Internal ID18745268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:146062451..148860637hg38UCSC Ensembl
Innerchr1:145023783..145372551hg19UCSC Ensembl
Innerchr1:143735140..144083908hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382798187
hg19348769
hg18348769
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv327n100
Supporting Variantsnssv3484784
Samples
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF12, NBPF9, NOTCH2NL, 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)nsv1002736
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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