A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622639



Internal ID15821212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8298280..8399039hg38UCSC Ensembl
Outerchr12:8450876..8551635hg19UCSC Ensembl
Outerchr12:8342143..8442902hg18UCSC Ensembl
Outerchr12:8342143..8442902hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38100760
hg19100760
hg18100760
hg17100760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508664
Supporting Variants
SamplesNA18994
Known GenesLINC00937
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)nssv622639
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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