A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618759



Internal ID15818563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:172448535..172526524hg38UCSC Ensembl
Outerchr4:173369686..173447675hg19UCSC Ensembl
Outerchr4:173606261..173684250hg18UCSC Ensembl
Outerchr4:173744416..173822405hg17UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3877990
hg1977990
hg1877990
hg1777990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508333
Supporting Variants
SamplesNA10860
Known GenesGALNTL6
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)nssv618759
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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