A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594932



Internal ID16382341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:97504431..97673929hg38UCSC Ensembl
Innerchr4:98425582..98595080hg19UCSC Ensembl
Innerchr4:98644605..98814103hg18UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38169499
hg19169499
hg18169499
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1003430
Samples
Known GenesSTPG2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594932
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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