A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5104



Internal ID15197468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247883204..247915649hg38UCSC Ensembl
Outerchr1:248046506..248078951hg19UCSC Ensembl
Outerchr1:246113129..246145574hg18UCSC Ensembl
Outerchr1:244372547..244404992hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3832446
hg1932446
hg1832446
hg1732446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5321
Supporting Variants
SamplesNA19129
Known GenesOR2W3
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)nssv5104
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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