A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1223



Internal ID15544506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:80919266..80962585hg38UCSC Ensembl
Outerchr1:81384951..81428270hg19UCSC Ensembl
Outerchr1:81157539..81200858hg18UCSC Ensembl
Outerchr1:81096972..81140291hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3843320
hg1943320
hg1843320
hg1743320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1644
Supporting Variants
SamplesNA19240
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)nssv1223
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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