A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10017



Internal ID15542780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:63782252..63805329hg38UCSC Ensembl
Outerchr14:64248970..64272047hg19UCSC Ensembl
Outerchr14:63318723..63341800hg18UCSC Ensembl
Outerchr14:63318723..63341800hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg388025
hg198025
hg188025
hg178025
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1305
Supporting Variants
SamplesNA18956
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)nssv10017
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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