A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5263



Internal ID15203369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:36973849..37004333hg38UCSC Ensembl
Outerchr6:36941625..36972109hg19UCSC Ensembl
Outerchr6:37049603..37080087hg18UCSC Ensembl
Outerchr6:37049603..37080087hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3830485
hg1930485
hg1830485
hg1730485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8236
SamplesNA12156
Known GenesMTCH1
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)nsv5263
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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