A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5094



Internal ID15197480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247657184..247694369hg38UCSC Ensembl
Outerchr1:247820486..247857671hg19UCSC Ensembl
Outerchr1:245887109..245924294hg18UCSC Ensembl
Outerchr1:244146527..244183712hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3837186
hg1937186
hg1837186
hg1737186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5310
Supporting Variants
SamplesNA19129
Known GenesOR13G1
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)nssv5094
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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