A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594800



Internal ID16035523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88007500..88008319hg38UCSC Ensembl
Innerchr4:88928652..88929471hg19UCSC Ensembl
Innerchr4:89147676..89148495hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38820
hg19820
hg18820
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1002783, nssv1002787, nssv1002785, nssv1002780, nssv1002786, nssv1002782, nssv1002781, nssv1002784
Samples
Known GenesPKD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594800
Frequency
Sample Size17421
Observed Gain5
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer