A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1712



Internal ID15199589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:2842984..2870374hg38UCSC Ensembl
Outerchr16:2892985..2920375hg19UCSC Ensembl
Outerchr16:2832986..2860376hg18UCSC Ensembl
Outerchr16:2832986..2860376hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg388038
hg198038
hg188038
hg178038
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9962, nssv2947, nssv10075, nssv6656, nssv1291, nssv4191, nssv5583
SamplesNA18507, NA18956, NA19129, NA12156, NA12878, NA19240, NA18555
Known GenesPRSS22
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)nsv1712
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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