A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1720



Internal ID15199597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:4854258..4900577hg38UCSC Ensembl
Outerchr16:4904259..4950578hg19UCSC Ensembl
Outerchr16:4844260..4890579hg18UCSC Ensembl
Outerchr16:4844260..4890579hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3846320
hg1946320
hg1846320
hg1746320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6659
SamplesNA12156
Known GenesPPL, UBN1
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)nsv1720
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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