A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509224



Internal ID15825250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:37068606..37189627hg38UCSC Ensembl
Outerchr1:37534207..37655228hg19UCSC Ensembl
Outerchr1:37306794..37427815hg18UCSC Ensembl
Outerchr1:37203300..37324321hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg385214
hg195214
hg185214
hg175214
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619793
SamplesNA10860
Known GenesMIR4255
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)nsv509224
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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