A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3686



Internal ID15538414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206653302..206666500hg38UCSC Ensembl
Outerchr1:206826647..206839845hg19UCSC Ensembl
Outerchr1:204893270..204906468hg18UCSC Ensembl
Outerchr1:203215042..203228240hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384724
hg194724
hg184724
hg174724
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4210
Supporting Variants
SamplesNA12878
Known Genes
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)nssv3686
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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