A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6423



Internal ID15204645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:139573049..139617462hg38UCSC Ensembl
Outerchr8:140585292..140629705hg19UCSC Ensembl
Outerchr8:140654474..140698887hg18UCSC Ensembl
Outerchr8:140654474..140698887hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3844414
hg1944414
hg1844414
hg1744414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1771
SamplesNA18555
Known GenesKCNK9
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)nsv6423
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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