A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3484



Internal ID15538212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:163073182..163105188hg38UCSC Ensembl
Outerchr1:163042972..163074978hg19UCSC Ensembl
Outerchr1:161309596..161341602hg18UCSC Ensembl
Outerchr1:159774630..159806636hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg387729
hg197729
hg187729
hg177729
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3332
Supporting Variants
SamplesNA12878
Known GenesRGS4
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)nssv3484
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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