A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4132



Internal ID15548811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:203011635..203039740hg38UCSC Ensembl
Outerchr1:202980763..203008868hg19UCSC Ensembl
Outerchr1:201247386..201275491hg18UCSC Ensembl
Outerchr1:199712420..199740525hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg388581
hg198581
hg188581
hg178581
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648
SamplesNA12878
Known GenesTMEM183A, TMEM183B
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)nsv4132
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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