A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5288



Internal ID15196804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:44815733..44848416hg38UCSC Ensembl
Outerchr10:45311181..45343864hg19UCSC Ensembl
Outerchr10:44631187..44663870hg18UCSC Ensembl
Outerchr10:44631187..44663870hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg386596
hg196596
hg186596
hg176596
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6521
Supporting Variants
SamplesNA19129
Known GenesTMEM72-AS1
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)nssv5288
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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