A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423



Internal ID15203545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:104780313..104813931hg38UCSC Ensembl
Outerchr6:105228188..105261806hg19UCSC Ensembl
Outerchr6:105334881..105368499hg18UCSC Ensembl
Outerchr6:105334881..105368499hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg387383
hg197383
hg187383
hg177383
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv572
SamplesNA19240
Known GenesHACE1
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)nsv5423
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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