A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5272



Internal ID15550065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:40114597..40136754hg38UCSC Ensembl
Outerchr6:40082336..40104493hg19UCSC Ensembl
Outerchr6:40190314..40212471hg18UCSC Ensembl
Outerchr6:40190314..40212471hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg385581
hg195581
hg185581
hg175581
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8239
SamplesNA12156
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)nsv5272
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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