A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2743



Internal ID15547306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12332549..12377445hg38UCSC Ensembl
Outerchr1:12392606..12437500hg19UCSC Ensembl
Outerchr1:12315193..12360087hg18UCSC Ensembl
Outerchr1:12326872..12371766hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3844897
hg1944895
hg1844895
hg1744895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7522
SamplesNA12156
Known GenesVPS13D
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)nsv2743
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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