A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2649



Internal ID15547212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:26323385..26339486hg38UCSC Ensembl
Outerchr2:26546253..26562354hg19UCSC Ensembl
Outerchr2:26399757..26415858hg18UCSC Ensembl
Outerchr2:26457904..26474005hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg386128
hg196128
hg186128
hg176128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7474, nssv10207
SamplesNA12156, NA18956
Known GenesGPR113
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)nsv2649
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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