A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv932



Internal ID15552953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:56351060..56376589hg38UCSC Ensembl
Outerchr1:56816732..56842261hg19UCSC Ensembl
Outerchr1:56589320..56614849hg18UCSC Ensembl
Outerchr1:56528753..56554282hg17UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3825530
hg1925530
hg1825530
hg1725530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4216
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)nsv932
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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