A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509225



Internal ID15476723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:151297446..151358722hg38UCSC Ensembl
Outerchr7:150994532..151055808hg19UCSC Ensembl
Outerchr7:150625465..150686741hg18UCSC Ensembl
Outerchr7:150432180..150493456hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383256
hg193256
hg183256
hg173256
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619501
SamplesNA10860
Known GenesNUB1
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)nsv509225
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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