A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501



Internal ID15550317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:139280318..139307326hg38UCSC Ensembl
Outerchr6:139601455..139628463hg19UCSC Ensembl
Outerchr6:139643148..139670156hg18UCSC Ensembl
Outerchr6:139643148..139670156hg17UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3827009
hg1927009
hg1827009
hg1727009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv587
SamplesNA19240
Known GenesTXLNB
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)nsv5501
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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