A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833856



Internal ID6159580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49351123..49489740hg19UCSC Ensembl
Outerchr19:54042935..54181552hg18UCSC Ensembl
Outerchr19:54042935..54181552hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv1454779, nssv1454778, nssv1454781, nssv1454776, nssv1454775, nssv1454780, nssv1454777
Samples
Known GenesBAX, DHDH, FTL, GYS1, NUCB1, PLEKHA4, PPP1R15A, TULP2
Method
Analysis
PlatformSMRT Whole Genome Tile Path BAC CGH Array
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv833856
Frequency
Sample Size95
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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