A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596173



Internal ID16036896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:171340402..172518114hg38UCSC Ensembl
Innerchr4:172261553..173439265hg19UCSC Ensembl
Innerchr4:172498128..173675840hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg381177713
hg191177713
hg181177713
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153517
Samples1780854479_A
Known GenesGALNTL6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596173
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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