A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618941



Internal ID15472059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:17947160..18052171hg38UCSC Ensembl
Outerchr17:17850474..17955485hg19UCSC Ensembl
Outerchr17:17791199..17896210hg18UCSC Ensembl
Outerchr17:17791199..17896210hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38105012
hg19105012
hg18105012
hg17105012
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510701
Supporting Variants
SamplesNA10860
Known GenesATPAF2, GID4, LRRC48, TOM1L2
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)nssv618941
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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