A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011654



Internal ID19100871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227008801..227120715hg38UCSC Ensembl
Innerchr1:227196502..227308416hg19UCSC Ensembl
Innerchr1:225263125..225375039hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38111915
hg19111915
hg18111915
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3494514
Samples
Known GenesCDC42BPA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011654
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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