A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2609



Internal ID15547172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:11837637..11870236hg38UCSC Ensembl
Outerchr2:11977763..12010362hg19UCSC Ensembl
Outerchr2:11895214..11927813hg18UCSC Ensembl
Outerchr2:11928361..11960960hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg387428
hg197428
hg187428
hg177428
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2249
SamplesNA18555
Known Genes
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)nsv2609
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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