A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3038



Internal ID15200921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:173845922..173890862hg38UCSC Ensembl
Outerchr2:174710650..174755590hg19UCSC Ensembl
Outerchr2:174418896..174463836hg18UCSC Ensembl
Outerchr2:174536157..174581097hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3844941
hg1944941
hg1844941
hg1744941
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7579
SamplesNA12156
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)nsv3038
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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