A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4300



Internal ID15539027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:72298083..72350551hg38UCSC Ensembl
Outerchr1:72763766..72816234hg19UCSC Ensembl
Outerchr1:72536354..72588822hg18UCSC Ensembl
Outerchr1:72475787..72528255hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3852469
hg1952469
hg1852469
hg1752469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1376
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)nssv4300
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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