A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv758



Internal ID15544285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:95441390..95475727hg38UCSC Ensembl
Outerchr8:96453618..96487955hg19UCSC Ensembl
Outerchr8:96522794..96557131hg18UCSC Ensembl
Outerchr8:96522794..96557131hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg386656
hg196656
hg186656
hg176656
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6316
Supporting Variants
SamplesNA19240
Known GenesLOC100616530
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)nssv758
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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