A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2757



Internal ID15547320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:64738565..64766830hg38UCSC Ensembl
Outerchr2:64965699..64993964hg19UCSC Ensembl
Outerchr2:64819203..64847468hg18UCSC Ensembl
Outerchr2:64877350..64905615hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3811006
hg1911006
hg1811006
hg1711006
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5790
SamplesNA19129
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)nsv2757
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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