A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020249



Internal ID18762785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:176133684..176233735hg38UCSC Ensembl
Innerchr4:177054835..177154886hg19UCSC Ensembl
Innerchr4:177291829..177391880hg18UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg38100052
hg19100052
hg18100052
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3635458
Samples
Known GenesASB5, MIR1267, SPATA4, WDR17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020249
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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