A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5121



Internal ID15203213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243584127..243628744hg38UCSC Ensembl
Outerchr1:243747429..243792046hg19UCSC Ensembl
Outerchr1:241814052..241858669hg18UCSC Ensembl
Outerchr1:240073470..240118087hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3844618
hg1944618
hg1844618
hg1744618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8247
SamplesNA12156
Known GenesAKT3
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)nsv5121
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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