A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599956



Internal ID16040679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150203773..150217392hg38UCSC Ensembl
Innerchr5:149583336..149596955hg19UCSC Ensembl
Innerchr5:149563529..149577148hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3813620
hg1913620
hg1813620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153611
SamplesNINDS_78
Known GenesSLC6A7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599956
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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