A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3387



Internal ID15547991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:165572933..165590141hg38UCSC Ensembl
Outerchr1:165542170..165559378hg19UCSC Ensembl
Outerchr1:163808794..163826002hg18UCSC Ensembl
Outerchr1:162273828..162291036hg17UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg386085
hg196085
hg186085
hg176085
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7755
SamplesNA12156
Known GenesLOC400794
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)nsv3387
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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