A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431



Internal ID15550240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:107026610..107060887hg38UCSC Ensembl
Outerchr6:107347814..107382091hg19UCSC Ensembl
Outerchr6:107454507..107488784hg18UCSC Ensembl
Outerchr6:107454507..107488784hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg385462
hg195462
hg185462
hg175462
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3465
SamplesNA12878
Known GenesC6orf203
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)nsv5431
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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