A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6632



Internal ID15204875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:49486011..49518477hg38UCSC Ensembl
Outerchr10:50694057..50726523hg19UCSC Ensembl
Outerchr10:50364063..50396529hg18UCSC Ensembl
Outerchr10:50364063..50396529hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg387276
hg197276
hg187276
hg177276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3877
SamplesNA12878
Known GenesERCC6, ERCC6-PGBD3, PGBD3
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)nsv6632
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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