A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509346



Internal ID15476844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:74724940..74739145hg38UCSC Ensembl
Outerchr1:75190624..75204829hg19UCSC Ensembl
Outerchr1:74963212..74977417hg18UCSC Ensembl
Outerchr1:74902645..74916850hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383471
hg193471
hg183471
hg173471
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617995
SamplesCHM
Known GenesCRYZ, TYW3
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)nsv509346
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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