A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2461



Internal ID15193982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148003589..148007198hg19UCSC Ensembl
Outerchr1:146470213..146473822hg18UCSC Ensembl
Outerchr1:145118501..145122110hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg1920330
hg1820330
hg1720330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2755
Supporting Variants
SamplesNA18555
Known GenesNBPF10, NBPF8
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)nssv2461
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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