A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510



Internal ID15203641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:142116209..142149985hg38UCSC Ensembl
Outerchr6:142437346..142471122hg19UCSC Ensembl
Outerchr6:142479039..142512815hg18UCSC Ensembl
Outerchr6:142479039..142512815hg17UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg385865
hg195865
hg185865
hg175865
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3476, nssv8306
SamplesNA12156, NA12878
Known GenesVTA1
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)nsv5510
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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