A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3848



Internal ID15191889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247684281..247696730hg38UCSC Ensembl
Outerchr1:247847583..247860032hg19UCSC Ensembl
Outerchr1:245914206..245926655hg18UCSC Ensembl
Outerchr1:244173624..244186073hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3812450
hg1912450
hg1812450
hg1712450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5310
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)nssv3848
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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