A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010181



Internal ID18752712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:144942033..145023143hg38UCSC Ensembl
Innerchr1:143982530..144067078hg19UCSC Ensembl
Innerchr1:142693888..142778435hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3881111
hg1984549
hg1884548
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3489796, nssv3501039, nssv3702085, nssv3496396, nssv3487929, nssv3485472, nssv3488906
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010181
Frequency
Sample Size29084
Observed Gain3
Observed Loss4
Observed Complex0
Frequencyn/a


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