A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv843



Internal ID15206178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:51886123..51927014hg38UCSC Ensembl
Outerchr1:52351795..52392686hg19UCSC Ensembl
Outerchr1:52124383..52165274hg18UCSC Ensembl
Outerchr1:52063816..52104707hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg385728
hg195728
hg185728
hg175728
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5554, nssv9125, nssv1136, nssv2131, nssv4189
SamplesNA19129, NA12156, NA12878, NA19240, NA18555
Known GenesRAB3B
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)nsv843
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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