A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1785



Internal ID15199662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30674622..30706894hg38UCSC Ensembl
Outerchr16:30685943..30718215hg19UCSC Ensembl
Outerchr16:30593444..30625716hg18UCSC Ensembl
Outerchr16:30593444..30625716hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg387757
hg197757
hg187757
hg177757
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2143
SamplesNA18555
Known GenesLOC730183, SRCAP
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)nsv1785
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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