A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1832



Internal ID15199709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:89889430..89934582hg38UCSC Ensembl
Outerchr1:90354989..90400141hg19UCSC Ensembl
Outerchr1:90127577..90172729hg18UCSC Ensembl
Outerchr1:90067010..90112162hg17UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3845153
hg1945153
hg1845153
hg1745153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5725, nssv7352
SamplesNA19129, NA12156
Known GenesLRRC8D
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)nsv1832
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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