A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618945



Internal ID15472063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41211299..41283127hg38UCSC Ensembl
Outerchr17:39367551..39439379hg19UCSC Ensembl
Outerchr17:36621077..36692905hg18UCSC Ensembl
Outerchr17:36621077..36692905hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3871829
hg1971829
hg1871829
hg1771829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv510710
Supporting Variants
SamplesNA10860
Known GenesKRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-6, KRTAP9-7, KRTAP9-8, KRTAP9-9
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)nssv618945
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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