A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3985



Internal ID15201963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126173880..126218546hg38UCSC Ensembl
Outerchr3:125892723..125937389hg19UCSC Ensembl
Outerchr3:127375413..127420079hg18UCSC Ensembl
Outerchr3:127375421..127420087hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3844667
hg1944667
hg1844667
hg1744667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7861
SamplesNA12156
Known GenesALDH1L1, ALDH1L1-AS2
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv3985
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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