A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1958



Internal ID15546521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:5882443..5897524hg38UCSC Ensembl
Outerchr17:5785763..5800844hg19UCSC Ensembl
Outerchr17:5726487..5741568hg18UCSC Ensembl
Outerchr17:5726487..5741568hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3821612
hg1921612
hg1821612
hg1721612
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9537
SamplesNA18507
Known GenesLOC339166
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)nsv1958
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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