A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10126



Internal ID15195985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:50501715..50528088hg38UCSC Ensembl
Outerchr17:48579076..48605449hg19UCSC Ensembl
Outerchr17:45934075..45960448hg18UCSC Ensembl
Outerchr17:45934075..45960448hg17UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3813135
hg1913135
hg1813135
hg1713135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2082
Supporting Variants
SamplesNA18956
Known GenesMYCBPAP
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)nssv10126
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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