A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624357



Internal ID15822930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:782539..808693hg38UCSC Ensembl
Outerchr1:717919..744073hg19UCSC Ensembl
Outerchr1:707782..733936hg18UCSC Ensembl
Outerchr1:757782..783936hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3826155
hg1926155
hg1826155
hg1726155
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510950
Supporting Variants
SamplesNA18994
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)nssv624357
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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