A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619782



Internal ID15818363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:23271472..23290078hg38UCSC Ensembl
Outerchr1:23597965..23616571hg19UCSC Ensembl
Outerchr1:23470552..23489158hg18UCSC Ensembl
Outerchr1:23343271..23361877hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg387368
hg197368
hg187368
hg177368
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509047
Supporting Variants
SamplesNA10860
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)nssv619782
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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