A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018601



Internal ID18761134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:19232737..19969258hg38UCSC Ensembl
Innerchr7:19272360..20008881hg19UCSC Ensembl
Innerchr7:19238885..19975406hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38736522
hg19736522
hg18736522
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3643249
Samples
Known GenesMIR3146, TMEM196, TWISTNB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018601
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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