A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624150



Internal ID15476037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:51799374..51805374hg38UCSC Ensembl
Outerchr10:53559134..53565134hg19UCSC Ensembl
Outerchr10:53229140..53235140hg18UCSC Ensembl
Outerchr10:53229140..53235140hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510218
Supporting Variants
SamplesNA18994
Known GenesPRKG1
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)nssv624150
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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