A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3223



Internal ID15191265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:146018222..146052325hg38UCSC Ensembl
Outerchr1:145382675..145416791hg19UCSC Ensembl
Outerchr1:144094032..144128148hg18UCSC Ensembl
Outerchr1:142871719..142905835hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg385629
hg195629
hg185629
hg175629
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2699
Supporting Variants
SamplesNA12878
Known GenesHFE2, LOC100288142, NBPF10
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)nssv3223
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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