A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508218



Internal ID15479894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52121853..52256394hg38UCSC Ensembl
Outerchr3:52155869..52290410hg19UCSC Ensembl
Outerchr3:52130909..52265450hg18UCSC Ensembl
Outerchr3:52130909..52265450hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38134542
hg19134542
hg18134542
hg17134542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622457
SamplesNA18994
Known GenesALAS1, POC1A, PPM1M, TLR9, TWF2, WDR82
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)nsv508218
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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