A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3126



Internal ID15201018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:206218194..206251247hg38UCSC Ensembl
Outerchr2:207082918..207115971hg19UCSC Ensembl
Outerchr2:206791163..206824216hg18UCSC Ensembl
Outerchr2:206908424..206941477hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg386381
hg196381
hg186381
hg176381
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7602
SamplesNA12156
Known GenesGPR1-AS
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)nsv3126
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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