A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623376



Internal ID15475263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47571038..47663104hg38UCSC Ensembl
Outerchr11:47592590..47684656hg19UCSC Ensembl
Outerchr11:47549166..47641232hg18UCSC Ensembl
Outerchr11:47549166..47641232hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg387974
hg197974
hg187974
hg177974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509405
Supporting Variants
SamplesNA18994
Known GenesAGBL2, C1QTNF4, FAM180B, KBTBD4, MTCH2, NDUFS3, PTPMT1
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)nssv623376
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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