A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2971



Internal ID15547534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:150869287..150913911hg38UCSC Ensembl
Outerchr2:151725801..151770425hg19UCSC Ensembl
Outerchr2:151434047..151478671hg18UCSC Ensembl
Outerchr2:151551309..151595933hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3844625
hg1944625
hg1844625
hg1744625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7563
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)nsv2971
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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