A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229



Internal ID15547817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237573888..237618697hg38UCSC Ensembl
Outerchr2:238482531..238527340hg19UCSC Ensembl
Outerchr2:238147270..238192079hg18UCSC Ensembl
Outerchr2:238264531..238309340hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3844810
hg1944810
hg1844810
hg1744810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7636
SamplesNA12156
Known GenesRAB17
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)nsv3229
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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