A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522



Internal ID8516989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:38026980..38061526hg38UCSC Ensembl
Outerchr1:38492652..38527198hg19UCSC Ensembl
Outerchr1:38265239..38299785hg18UCSC Ensembl
Outerchr1:38161745..38196291hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg385483
hg195483
hg185483
hg175483
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2925
SamplesNA18555
Known GenesPOU3F1
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)nsv522
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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