A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6104



Internal ID15204294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19511000..19545533hg38UCSC Ensembl
Outerchr8:19368511..19403044hg19UCSC Ensembl
Outerchr8:19412791..19447324hg18UCSC Ensembl
Outerchr8:19412791..19447324hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg385190
hg195190
hg185190
hg175190
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3632
SamplesNA12878
Known GenesCSGALNACT1
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)nsv6104
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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