A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv35



Internal ID15036817
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
hg3818948
hg1918948
hg1818948
hg1718948
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv35
Supporting Variants
SamplesNA15510
Known GenesNBPF10, NBPF8
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)nssv35
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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