A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1995



Internal ID15546558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:17047941..17065227hg38UCSC Ensembl
Outerchr17:16951255..16968541hg19UCSC Ensembl
Outerchr17:16891980..16909266hg18UCSC Ensembl
Outerchr17:16891980..16909266hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3817531
hg1917531
hg1817531
hg1717531
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4254, nssv5642
SamplesNA12878, NA19129
Known GenesMPRIP
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)nsv1995
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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