A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3376



Internal ID15201293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:165513885..165548586hg38UCSC Ensembl
Outerchr1:165483122..165517823hg19UCSC Ensembl
Outerchr1:163749746..163784447hg18UCSC Ensembl
Outerchr1:162214780..162249481hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg386284
hg196284
hg186284
hg176284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1671
SamplesNA19240
Known GenesLOC400794, LRRC52
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)nsv3376
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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