A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596199



Internal ID16383608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:172001106..172114109hg38UCSC Ensembl
Innerchr4:172922257..173035260hg19UCSC Ensembl
Innerchr4:173158832..173271835hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38113004
hg19113004
hg18113004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9391n54
Supporting Variantsnssv1014368, nssv1014367
Samples
Known GenesGALNTL6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596199
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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