A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1292



Internal ID15197744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:14721542..14769738hg38UCSC Ensembl
Outerchr16:14815399..14863595hg19UCSC Ensembl
Outerchr16:14722900..14771096hg18UCSC Ensembl
Outerchr16:14722900..14771096hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3848197
hg1948197
hg1848197
hg1748197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1740
Supporting Variants
SamplesNA19240
Known GenesNPIPA2, NPIPA3
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)nssv1292
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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