A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420



Internal ID15203542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:104688176..104734691hg38UCSC Ensembl
Outerchr6:105136051..105182566hg19UCSC Ensembl
Outerchr6:105242744..105289259hg18UCSC Ensembl
Outerchr6:105242744..105289259hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3846516
hg1946516
hg1846516
hg1746516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6082
SamplesNA12156
Known GenesHACE1
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)nsv5420
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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