A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619977



Internal ID15819334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:84605260..84615846hg38UCSC Ensembl
Outerchr6:85314978..85325564hg19UCSC Ensembl
Outerchr6:85371697..85382283hg18UCSC Ensembl
Outerchr6:85371697..85382283hg17UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3810587
hg1910587
hg1810587
hg1710587
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508419
Supporting Variants
SamplesNA15510
Known Genes
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)nssv619977
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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