A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623788



Internal ID15475675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:99666544..99708109hg38UCSC Ensembl
Outerchr1:100132100..100173665hg19UCSC Ensembl
Outerchr1:99904688..99946253hg18UCSC Ensembl
Outerchr1:99844121..99885686hg17UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg383489
hg193489
hg183489
hg173489
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509391
Supporting Variants
SamplesNA18994
Known GenesMIR548AA1, MIR548D1, PALMD
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)nssv623788
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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