A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1242



Internal ID15544485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:84506726..84542032hg38UCSC Ensembl
Outerchr1:84972409..85007715hg19UCSC Ensembl
Outerchr1:84744997..84780303hg18UCSC Ensembl
Outerchr1:84684430..84719736hg17UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg385695
hg195695
hg185695
hg175695
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1755
Supporting Variants
SamplesNA19240
Known Genes
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)nssv1242
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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