A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1329



Internal ID15197703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:83633118..83660567hg38UCSC Ensembl
Outerchr16:83666723..83694172hg19UCSC Ensembl
Outerchr16:82224224..82251673hg18UCSC Ensembl
Outerchr16:82224224..82251673hg17UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3827450
hg1927450
hg1827450
hg1727450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1906
Supporting Variants
SamplesNA19240
Known GenesCDH13
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)nssv1329
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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