A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5294



Internal ID15550089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:49849075..49885633hg38UCSC Ensembl
Outerchr6:49816788..49853346hg19UCSC Ensembl
Outerchr6:49924747..49961305hg18UCSC Ensembl
Outerchr6:49924747..49961305hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3836559
hg1936559
hg1836559
hg1736559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6065
SamplesNA12156
Known GenesCRISP1
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)nsv5294
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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