A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1722



Internal ID15199599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:5031097..5075947hg38UCSC Ensembl
Outerchr16:5081098..5125948hg19UCSC Ensembl
Outerchr16:5021099..5065949hg18UCSC Ensembl
Outerchr16:5021099..5065949hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3844851
hg1944851
hg1844851
hg1744851
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7227
SamplesNA12156
Known GenesALG1, C16orf89, NAGPA, NAGPA-AS1
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)nsv1722
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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