A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11043



Internal ID15192979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148564609..148569172hg38UCSC Ensembl
Outerchr1:148009414..148010801hg19UCSC Ensembl
Outerchr1:146476038..146477425hg18UCSC Ensembl
Outerchr1:145124326..145125713hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3818840
hg1918840
hg1818840
hg1718840
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2755
Supporting Variants
SamplesNA15510
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)nssv11043
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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