A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593635



Internal ID16034358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8269725..8270256hg38UCSC Ensembl
Innerchr4:8271452..8271983hg19UCSC Ensembl
Innerchr4:8322352..8322883hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38532
hg19532
hg18532
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv991240, nssv991244, nssv991241, nssv991243, nssv991246, nssv991242, nssv991245
Samples
Known GenesHTRA3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593635
Frequency
Sample Size17421
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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