A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7067



Internal ID15190111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152191047..152215019hg38UCSC Ensembl
Outerchr1:152163523..152187495hg19UCSC Ensembl
Outerchr1:150430147..150454119hg18UCSC Ensembl
Outerchr1:148976596..149000568hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg389372
hg199372
hg189372
hg179372
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2877
Supporting Variants
SamplesNA12156
Known GenesHRNR
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)nssv7067
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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