A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620969



Internal ID15473633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55327584..55354210hg38UCSC Ensembl
Outerchr12:55721368..55747994hg19UCSC Ensembl
Outerchr12:54007635..54034261hg18UCSC Ensembl
Outerchr12:54007635..54034261hg17UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg388178
hg198178
hg188178
hg178178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv509469
Supporting Variants
SamplesNA15510
Known GenesOR6C3
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)nssv620969
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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