A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6213



Internal ID15537650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:244691787..244723753hg38UCSC Ensembl
Outerchr1:244855089..244887055hg19UCSC Ensembl
Outerchr1:242921712..242953678hg18UCSC Ensembl
Outerchr1:241181130..241213096hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg387474
hg197474
hg187474
hg177474
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5165
Supporting Variants
SamplesNA12156
Known GenesDESI2
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)nssv6213
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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