A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3988



Internal ID15548652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196043381..196077923hg38UCSC Ensembl
Outerchr1:196012511..196047053hg19UCSC Ensembl
Outerchr1:194279134..194313676hg18UCSC Ensembl
Outerchr1:192744168..192778710hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg385208
hg195208
hg185208
hg175208
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3621
SamplesNA12878
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)nsv3988
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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