A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2729



Internal ID15541845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:98525553..98560241hg38UCSC Ensembl
Outerchr6:98973429..99008117hg19UCSC Ensembl
Outerchr6:99080150..99114838hg18UCSC Ensembl
Outerchr6:99080150..99114838hg17UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg385334
hg195334
hg185334
hg175334
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5407
Supporting Variants
SamplesNA18555
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)nssv2729
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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