A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594806



Internal ID16035529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88621130..90539537hg38UCSC Ensembl
Innerchr4:89542281..91460688hg19UCSC Ensembl
Innerchr4:89761304..91679711hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg381918408
hg191918408
hg181918408
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153471
SamplesHGDP00721
Known GenesCCSER1, FAM13A, FAM13A-AS1, GPRIN3, HERC3, LOC644248, MMRN1, NAP1L5, SNCA, TIGD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594806
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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