A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509002



Internal ID15476500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:21578381..21654198hg38UCSC Ensembl
Outerchr1:21904874..21980691hg19UCSC Ensembl
Outerchr1:21777461..21853278hg18UCSC Ensembl
Outerchr1:21650180..21725997hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg383681
hg193681
hg183681
hg173681
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619779
SamplesNA10860
Known GenesALPL, RAP1GAP
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)nsv509002
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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