A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv366



Internal ID15548291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:33628967..33661355hg38UCSC Ensembl
Outerchr1:34094567..34126955hg19UCSC Ensembl
Outerchr1:33867154..33899542hg18UCSC Ensembl
Outerchr1:33763660..33796048hg17UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg387340
hg197340
hg187340
hg177340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4102
SamplesNA12878
Known GenesCSMD2
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)nsv366
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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