A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509180



Internal ID15825206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:33764723..33850422hg38UCSC Ensembl
Outerchr1:34230324..34316023hg19UCSC Ensembl
Outerchr1:34002911..34088610hg18UCSC Ensembl
Outerchr1:33899417..33985116hg17UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg383438
hg193438
hg183438
hg173438
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621093
SamplesNA15510
Known GenesCSMD2
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)nsv509180
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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