A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4593



Internal ID15192634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:180797..207095hg38UCSC Ensembl
Outerchr3:222480..248778hg19UCSC Ensembl
Outerchr3:197480..223778hg18UCSC Ensembl
Outerchr3:197480..223778hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3826299
hg1926299
hg1826299
hg1726299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3670
Supporting Variants
SamplesNA12878
Known GenesCHL1
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)nssv4593
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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