A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4933



Internal ID15196211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:89837037..89869200hg38UCSC Ensembl
Outerchr6:90546756..90578919hg19UCSC Ensembl
Outerchr6:90603477..90635640hg18UCSC Ensembl
Outerchr6:90603477..90635640hg17UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg387125
hg197125
hg187125
hg177125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5391
Supporting Variants
SamplesNA19129
Known GenesCASP8AP2
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)nssv4933
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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