A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427



Internal ID15550235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:105850275..105894827hg38UCSC Ensembl
Outerchr6:106298150..106342702hg19UCSC Ensembl
Outerchr6:106404843..106449395hg18UCSC Ensembl
Outerchr6:106404843..106449395hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3844553
hg1944553
hg1844553
hg1744553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2610
SamplesNA18555
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)nsv5427
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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