A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997511



Internal ID18810361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151519289..151623426hg38UCSC Ensembl
Innerchr1:151491765..151595902hg19UCSC Ensembl
Innerchr1:149758389..149862526hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38104138
hg19104138
hg18104138
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3705032
Samples
Known GenesCGN, MIR554, SNX27, TUFT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997511
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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