A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508397



Internal ID8791338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29695355..29793671hg38UCSC Ensembl
Outerchr6:29663132..29761448hg19UCSC Ensembl
Outerchr6:29771111..29869427hg18UCSC Ensembl
Outerchr6:29771111..29869427hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3898317
hg1998317
hg1898317
hg1798317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622544
SamplesNA18994
Known GenesHCG4, HLA-F, HLA-F-AS1, IFITM4P, LOC554223
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)nsv508397
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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