A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509229



Internal ID15825255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:157459342..157536242hg38UCSC Ensembl
Outerchr7:157252036..157328936hg19UCSC Ensembl
Outerchr7:156944797..157021697hg18UCSC Ensembl
Outerchr7:156751512..156828412hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg383539
hg193539
hg183539
hg173539
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619504
SamplesNA10860
Known Genes
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)nsv509229
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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