A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3365



Internal ID15547967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:165169945..165193955hg38UCSC Ensembl
Outerchr1:165139182..165163192hg19UCSC Ensembl
Outerchr1:163405806..163429816hg18UCSC Ensembl
Outerchr1:161870840..161894850hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg386757
hg196757
hg186757
hg176757
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1662
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)nsv3365
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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