A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2849



Internal ID15547412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:100560712..100593827hg38UCSC Ensembl
Outerchr2:101177174..101210289hg19UCSC Ensembl
Outerchr2:100543606..100576721hg18UCSC Ensembl
Outerchr2:100635692..100668807hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg386322
hg196322
hg186322
hg176322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7530
SamplesNA12156
Known GenesPDCL3
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)nsv2849
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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