A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv638



Internal ID15198544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247686753..247714043hg38UCSC Ensembl
Outerchr1:247850055..247877345hg19UCSC Ensembl
Outerchr1:245916678..245943968hg18UCSC Ensembl
Outerchr1:244176096..244203386hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3827291
hg1927291
hg1827291
hg1727291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5310
Supporting Variants
SamplesNA19240
Known GenesOR6F1
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)nssv638
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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