A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516387



Internal ID15096994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:168748286..168752544hg38UCSC Ensembl
Innerchr5:168175291..168179549hg19UCSC Ensembl
Innerchr5:168107869..168112127hg18UCSC Ensembl
Innerchr5:168107869..168112127hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg384259
hg194259
hg184259
hg174259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv360n21
Supporting Variantsnssv685426, nssv672636, nssv667951, nssv657146, nssv668738
Samples
Known GenesSLIT3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516387
Frequency
Sample Size2026
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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