A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5301



Internal ID15543373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:86500430..86510630hg38UCSC Ensembl
Outerchr10:88260187..88270387hg19UCSC Ensembl
Outerchr10:88250167..88260367hg18UCSC Ensembl
Outerchr10:88250167..88260367hg17UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg385956
hg195956
hg185956
hg175956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7480
Supporting Variants
SamplesNA19129
Known GenesWAPAL
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)nssv5301
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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