A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594234



Internal ID16034957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:59433942..60905713hg38UCSC Ensembl
Innerchr4:60299660..61771431hg19UCSC Ensembl
Innerchr4:59982255..61454026hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg381471772
hg191471772
hg181471772
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv998103
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594234
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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