A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3343



Internal ID15547943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:163651008..163690096hg38UCSC Ensembl
Outerchr1:163620739..163659824hg19UCSC Ensembl
Outerchr1:161887363..161926448hg18UCSC Ensembl
Outerchr1:160352397..160391482hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg388242
hg198242
hg188242
hg178242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4795, nssv2597
SamplesNA18555, NA19129
Known Genes
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)nsv3343
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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