A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1936



Internal ID15546499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:216481..224858hg38UCSC Ensembl
Outerchr17:66272..74649hg19UCSC Ensembl
Outerchr17:66272..74649hg18UCSC Ensembl
Outerchr17:66272..74649hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg388506
hg198506
hg188506
hg178506
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4239, nssv2155
SamplesNA12878, NA18555
Known GenesRPH3AL
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)nsv1936
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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