A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007337



Internal ID18749868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:110627440..112060666hg38UCSC Ensembl
Innerchr4:111548596..112981822hg19UCSC Ensembl
Innerchr4:111768045..113201271hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg381433227
hg191433227
hg181433227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3632599
Samples
Known GenesPITX2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007337
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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