A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv526



Internal ID15544684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13125705..13128726hg38UCSC Ensembl
Outerchr6:13125937..13128958hg19UCSC Ensembl
Outerchr6:13233923..13236944hg18UCSC Ensembl
Outerchr6:13233923..13236944hg17UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg387168
hg197168
hg187168
hg177168
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5203
Supporting Variants
SamplesNA19240
Known GenesPHACTR1
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)nssv526
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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