A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002972



Internal ID18745504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:22286197..22479399hg38UCSC Ensembl
Innerchr1:22612690..22805892hg19UCSC Ensembl
Innerchr1:22485277..22678479hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38193203
hg19193203
hg18193203
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv131n100
Supporting Variantsnssv3468351
Samples
Known GenesZBTB40
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002972
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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