A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2600



Internal ID15547163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:8886754..8920925hg38UCSC Ensembl
Outerchr2:9026884..9061055hg19UCSC Ensembl
Outerchr2:8944335..8978506hg18UCSC Ensembl
Outerchr2:8977482..9011653hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg385860
hg195860
hg185860
hg175860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3008
SamplesNA18555
Known GenesMBOAT2
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)nsv2600
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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