A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4371



Internal ID15539098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:80934469..80970040hg38UCSC Ensembl
Outerchr1:81400154..81435725hg19UCSC Ensembl
Outerchr1:81172742..81208313hg18UCSC Ensembl
Outerchr1:81112175..81147746hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3835572
hg1935572
hg1835572
hg1735572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1644
Supporting Variants
SamplesNA12878
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)nssv4371
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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