A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508241



Internal ID15479917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:128483473..128562572hg38UCSC Ensembl
Outerchr3:128202316..128281415hg19UCSC Ensembl
Outerchr3:129685006..129764105hg18UCSC Ensembl
Outerchr3:129685014..129764113hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3879100
hg1979100
hg1879100
hg1779100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619922
SamplesNA15510
Known GenesGATA2, LOC90246
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)nsv508241
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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