A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3020401



Internal ID15222548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7119903..7119903hg38UCSC Ensembl
chr12:7272499..7272499hg19UCSC Ensembl
chr12:7163775..7163775hg18UCSC Ensembl
chr12:7163775..7163775hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv481255
Supporting Variants
Samples
Known GenesC1RL-AS1
MethodSequencing
Analysis
PlatformAgilent Custom Human 244K CGH Array
CommentsOEA contig. The coordinate provided is from the mappable end of a contig assembled from multiple read pairs, and indicates the genomic vicinity of a novel sequence insertion.
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)nssv3020401
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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