A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2972



Internal ID15200849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:151342278..151375924hg38UCSC Ensembl
Outerchr2:152198792..152232438hg19UCSC Ensembl
Outerchr2:151907038..151940684hg18UCSC Ensembl
Outerchr2:152024300..152057946hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg385636
hg195636
hg185636
hg175636
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5825
SamplesNA19129
Known GenesMIR4773-1, MIR4773-2, TNFAIP6
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)nsv2972
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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