A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511093



Internal ID15478587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:34990785..35016673hg38UCSC Ensembl
Outerchr1:35456386..35482274hg19UCSC Ensembl
Outerchr1:35228973..35254861hg18UCSC Ensembl
Outerchr1:35125479..35151367hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3825889
hg1925889
hg1825889
hg1725889
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624359
SamplesNA18994
Known GenesZMYM6
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)nsv511093
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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