A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3676



Internal ID15191718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:86175765..86217579hg38UCSC Ensembl
Outerchr8:87187994..87229808hg19UCSC Ensembl
Outerchr8:87257110..87298924hg18UCSC Ensembl
Outerchr8:87257110..87298924hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3841815
hg1941815
hg1841815
hg1741815
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6290
Supporting Variants
SamplesNA12878
Known GenesSLC7A13
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)nssv3676
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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