A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5045



Internal ID15196155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12810402..13118434hg38UCSC Ensembl
Outerchr1:12870541..13185906hg19UCSC Ensembl
Outerchr1:12793128..13108493hg18UCSC Ensembl
Outerchr1:12804807..13009889hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38308033
hg19315366
hg18315366
hg17205083
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2965
Supporting Variants
SamplesNA19129
Known GenesHNRNPCL1, HNRNPCP5, LOC649330, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF22, PRAMEF23, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8
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)nssv5045
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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