A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv499637



Internal ID15468997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2553995..2567688hg38UCSC Ensembl
chr1:2485434..2499127hg19UCSC Ensembl
chr1:2474521..2489144hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3813694
hg1913694
hg1814624
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1n47
Supporting Variantsnssv585480
Samples
Known GenesLOC100133445, TNFRSF14
MethodSequencing
AnalysisFor each individuals we constructed a whole genomic library of approximately 1 million clones using a fosdmid subcloning strategy Paried end sequences from each clone were sequenced and searched against NCBI build35. Individual fosmid clones corresponding to regions of structural difference relative to the genome reference were selected and sequenced. The breakpoints determined from complete fosmid sequencing are given using the NCBI build36 genome assembly.
PlatformCapillary
Comments
ReferenceKidd_et_al_2010b
Pubmed ID21111241
Accession Number(s)nsv499637
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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