A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548



Internal ID15550368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:153856355..153885643hg38UCSC Ensembl
Outerchr6:154177490..154206778hg19UCSC Ensembl
Outerchr6:154219183..154248471hg18UCSC Ensembl
Outerchr6:154269604..154298892hg17UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg3829289
hg1929289
hg1829289
hg1729289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8315
SamplesNA12156
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)nsv5548
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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