A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510984



Internal ID15478478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148220348..148517518hg38UCSC Ensembl
Outerchr1:147692626..147989743hg19UCSC Ensembl
Outerchr1:146159250..146456367hg18UCSC Ensembl
Outerchr1:144807538..145104655hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38297171
hg19297118
hg18297118
hg17297118
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624363
SamplesNA18994
Known GenesLINC01138, LOC100130000, MIR5087, MIR6077-1, MIR6077-2, NBPF10, NBPF8, PPIAL4A, PPIAL4B
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)nsv510984
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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