A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6701



Internal ID15537162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:80662206..80708208hg38UCSC Ensembl
Outerchr1:81127891..81173893hg19UCSC Ensembl
Outerchr1:80900479..80946481hg18UCSC Ensembl
Outerchr1:80839912..80885914hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3846003
hg1946003
hg1846003
hg1746003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1621
Supporting Variants
SamplesNA12156
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)nssv6701
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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