A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2934



Internal ID15547497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:133610907..133654883hg38UCSC Ensembl
Outerchr2:134368478..134412454hg19UCSC Ensembl
Outerchr2:134084948..134128924hg18UCSC Ensembl
Outerchr2:134202210..134246186hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3843977
hg1943977
hg1843977
hg1743977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7556
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)nsv2934
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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