A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10430



Internal ID15195682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:198504506..198529478hg38UCSC Ensembl
Outerchr1:198473636..198498608hg19UCSC Ensembl
Outerchr1:196740259..196765231hg18UCSC Ensembl
Outerchr1:195205293..195230265hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3811336
hg1911336
hg1811336
hg1711336
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4043
Supporting Variants
SamplesNA18956
Known GenesATP6V1G3
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)nssv10430
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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