A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4243



Internal ID15202247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207862207..207894577hg38UCSC Ensembl
Outerchr1:208035552..208067922hg19UCSC Ensembl
Outerchr1:206102175..206134545hg18UCSC Ensembl
Outerchr1:204423947..204456317hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg388619
hg198619
hg188619
hg178619
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv464
SamplesNA19240
Known GenesCD34
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)nsv4243
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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