A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000509



Internal ID19089726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:73103261..73341232hg38UCSC Ensembl
Innerchr4:73968978..74206949hg19UCSC Ensembl
Innerchr4:74187842..74425813hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38237972
hg19237972
hg18237972
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3742868
Samples
Known GenesANKRD17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000509
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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