A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv478675



Internal ID15231415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56784074..56784074hg38UCSC Ensembl
chr1:57249747..57249747hg19UCSC Ensembl
chr1:57022335..57022335hg18UCSC Ensembl
chr1:56961768..56961768hg17UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3018360
SamplesNA18507
Known GenesC1orf168
MethodSequencing
AnalysisSearch fosmid ESPs as described in Tuzun et al (2005)
PlatformAgilent Custom Human 244K CGH Array
CommentsOEA singleton. The coordinate provided is from the mappable member of a fosmid end sequence pair, and indicates the genomic vicinity of a novel sequence insertion
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)nsv478675
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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