A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2974



Internal ID15200851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:151544981..151642941hg38UCSC Ensembl
Outerchr2:152401495..152499455hg19UCSC Ensembl
Outerchr2:152109741..152207701hg18UCSC Ensembl
Outerchr2:152227003..152324963hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3897961
hg1997961
hg1897961
hg1797961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4471, nssv2299
SamplesNA12878, NA18555
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)nsv2974
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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