A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2332



Internal ID15200209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109691645..109714861hg38UCSC Ensembl
Outerchr1:110234267..110257483hg19UCSC Ensembl
Outerchr1:110035790..110059006hg18UCSC Ensembl
Outerchr1:109946309..109969525hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3817778
hg1917778
hg1817778
hg1717778
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1317
SamplesNA19240
Known GenesGSTM1, GSTM5
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)nsv2332
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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