A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5389



Internal ID15550193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:88236681..88270100hg38UCSC Ensembl
Outerchr6:88946400..88979819hg19UCSC Ensembl
Outerchr6:89003119..89036538hg18UCSC Ensembl
Outerchr6:89003119..89036538hg17UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg386320
hg196320
hg186320
hg176320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3458
SamplesNA12878
Known Genes
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)nsv5389
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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