A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2299



Internal ID15193924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:151544981..151595946hg38UCSC Ensembl
Outerchr2:152401495..152452460hg19UCSC Ensembl
Outerchr2:152109741..152160706hg18UCSC Ensembl
Outerchr2:152227003..152277968hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3850966
hg1950966
hg1850966
hg1750966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2974
Supporting Variants
SamplesNA18555
Known GenesNEB
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)nssv2299
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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