A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244



Internal ID15547834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241359384..241404287hg38UCSC Ensembl
Outerchr2:242298799..242343702hg19UCSC Ensembl
Outerchr2:241947472..241992375hg18UCSC Ensembl
Outerchr2:242018789..242063692hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3844904
hg1944904
hg1844904
hg1744904
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7640
SamplesNA12156
Known GenesFARP2
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)nsv3244
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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