A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3688



Internal ID15548322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:177337021..177372035hg38UCSC Ensembl
Outerchr1:177306157..177341171hg19UCSC Ensembl
Outerchr1:175572780..175607794hg18UCSC Ensembl
Outerchr1:174037814..174072828hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg385982
hg195982
hg185982
hg175982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv342
SamplesNA19240
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)nsv3688
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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