A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv675



Internal ID15545269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:108238222..108270533hg38UCSC Ensembl
Outerchr7:107878666..107910977hg19UCSC Ensembl
Outerchr7:107665902..107698213hg18UCSC Ensembl
Outerchr7:107472617..107504928hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg388672
hg198672
hg188672
hg178672
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5895
Supporting Variants
SamplesNA19240
Known GenesNRCAM
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)nssv675
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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