A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623780



Internal ID15822353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31487776..31527074hg38UCSC Ensembl
Outerchr1:31960623..31992675hg19UCSC Ensembl
Outerchr1:31733210..31765262hg18UCSC Ensembl
Outerchr1:31629716..31661768hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg386940
hg196940
hg186940
hg176940
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509147
Supporting Variants
SamplesNA18994
Known GenesLOC149086, LOC284551
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)nssv623780
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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