A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509129



Internal ID15825155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:34062850..34099042hg38UCSC Ensembl
Outerchr6:34030627..34066819hg19UCSC Ensembl
Outerchr6:34138605..34174797hg18UCSC Ensembl
Outerchr6:34138605..34174797hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg385377
hg195377
hg185377
hg175377
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619448
SamplesNA10860
Known GenesGRM4
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)nsv509129
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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