A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5064



Internal ID15196132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19349131..19382830hg38UCSC Ensembl
Outerchr8:19206642..19240341hg19UCSC Ensembl
Outerchr8:19250922..19284621hg18UCSC Ensembl
Outerchr8:19250922..19284621hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg385587
hg195587
hg185587
hg175587
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6103
Supporting Variants
SamplesNA19129
Known GenesSH2D4A
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)nssv5064
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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