A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508864



Internal ID15476362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:127585891..127684658hg38UCSC Ensembl
Outerchr2:128343466..128442232hg19UCSC Ensembl
Outerchr2:128059936..128158702hg18UCSC Ensembl
Outerchr2:128059696..128158462hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg383319
hg193319
hg183319
hg173319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619289
SamplesNA10860
Known GenesGPR17, LIMS2, MYO7B
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv508864
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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