A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5602



Internal ID15203742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170133920..170173760hg38UCSC Ensembl
Outerchr6:170449144..170488984hg19UCSC Ensembl
Outerchr6:170291069..170330909hg18UCSC Ensembl
Outerchr6:170366776..170406616hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg385683
hg195683
hg185683
hg175683
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv605, nssv8330
SamplesNA12156, NA19240
Known Genes
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)nsv5602
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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