A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7172



Internal ID15205469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12819832..13271532hg38UCSC Ensembl
Outerchr1:12879694..13377142hg19UCSC Ensembl
Outerchr1:12802281..13249729hg18UCSC Ensembl
Outerchr1:12813960..13122448hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38451701
hg19497449
hg18447449
hg17308489
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5286, nssv10403, nssv7150, nssv9329, nssv9625, nssv5213, nssv3714, nssv10379, nssv11101, nssv7060, nssv2496, nssv5133, nssv11168, nssv382, nssv6080, nssv9624
SamplesNA18517, NA18507, NA15510, NA18956, NA19129, NA12156, NA12878, NA19240, NA18555
Known GenesHNRNPCL1, HNRNPCP5, LOC649330, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF22, PRAMEF23, PRAMEF3, 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)nsv7172
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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