A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv589



Internal ID15198612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:150150447..150185342hg38UCSC Ensembl
Outerchr6:150471583..150506478hg19UCSC Ensembl
Outerchr6:150513276..150548171hg18UCSC Ensembl
Outerchr6:150563697..150598592hg17UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg386079
hg196079
hg186079
hg176079
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536
Supporting Variants
SamplesNA19240
Known GenesPPP1R14C
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)nssv589
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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