A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2965



Internal ID15200842
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3620, nssv10340, nssv5045, nssv9308
SamplesNA18517, NA18956, NA19129, NA12878
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)nsv2965
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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