A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598351



Internal ID16039074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:63828313..64455317hg38UCSC Ensembl
Innerchr5:63124140..63751144hg19UCSC Ensembl
Innerchr5:63159896..63786900hg18UCSC Ensembl
Cytoband5q12.2
Allele length
AssemblyAllele length
hg38627005
hg19627005
hg18627005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034352
Samples
Known GenesHTR1A, RNF180
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598351
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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