A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2454



Internal ID15547017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:112271227..112315637hg38UCSC Ensembl
Outerchr1:112813849..112858259hg19UCSC Ensembl
Outerchr1:112615372..112659782hg18UCSC Ensembl
Outerchr1:112525891..112570301hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3844411
hg1944411
hg1844411
hg1744411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6838, nssv2317
SamplesNA12156, NA18555
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)nsv2454
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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