A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1188



Internal ID15545751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:65530943..65582243hg38UCSC Ensembl
Outerchr1:65996626..66047926hg19UCSC Ensembl
Outerchr1:65769214..65820514hg18UCSC Ensembl
Outerchr1:65708647..65759947hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3851301
hg1951301
hg1851301
hg1751301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9242, nssv4273
SamplesNA12156, NA12878
Known GenesLEPR
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)nsv1188
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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