A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712



Internal ID15550549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:40545468..40579744hg38UCSC Ensembl
Outerchr7:40585067..40619343hg19UCSC Ensembl
Outerchr7:40551592..40585868hg18UCSC Ensembl
Outerchr7:40358307..40392583hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg385472
hg195472
hg185472
hg175472
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3522
SamplesNA12878
Known GenesC7orf10
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)nsv5712
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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