A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5981



Internal ID15196698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:123854567..123877941hg38UCSC Ensembl
Outerchr3:123573414..123596788hg19UCSC Ensembl
Outerchr3:125056104..125079478hg18UCSC Ensembl
Outerchr3:125056104..125079478hg17UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg386497
hg196497
hg186497
hg176497
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3979
Supporting Variants
SamplesNA19129
Known GenesMYLK
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)nssv5981
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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