A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596230



Internal ID16036953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:173169112..173169855hg38UCSC Ensembl
Innerchr4:174090263..174091006hg19UCSC Ensembl
Innerchr4:174326838..174327581hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38744
hg19744
hg18744
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9397n54
Supporting Variantsnssv1016871, nssv1016869, nssv1016870
Samples
Known GenesGALNT7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596230
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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