A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4529



Internal ID15192570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:116367775..116402530hg38UCSC Ensembl
Outerchr1:116910397..116945152hg19UCSC Ensembl
Outerchr1:116711920..116746675hg18UCSC Ensembl
Outerchr1:116622439..116657194hg17UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg384990
hg194990
hg184990
hg174990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2533
Supporting Variants
SamplesNA12878
Known GenesATP1A1, ATP1A1OS
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)nssv4529
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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