A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3623



Internal ID15538351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:7768196..7770868hg38UCSC Ensembl
Outerchr8:7625718..7628390hg19UCSC Ensembl
Outerchr8:7663128..7665800hg18UCSC Ensembl
Outerchr8:7663128..7665800hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3827072
hg1927072
hg1827072
hg1727072
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6069
Supporting Variants
SamplesNA12878
Known GenesFAM90A10P
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)nssv3623
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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