A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549270



Internal ID16336679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227102438..227173371hg38UCSC Ensembl
Innerchr1:227290139..227361072hg19UCSC Ensembl
Innerchr1:225356762..225427695hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3870934
hg1970934
hg1870934
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv737368, nssv737367
Samples
Known GenesCDC42BPA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549270
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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