A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623523



Internal ID15822096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158582001..158629651hg38UCSC Ensembl
Outerchr7:158374693..158422343hg19UCSC Ensembl
Outerchr7:158067454..158115104hg18UCSC Ensembl
Outerchr7:157874169..157921819hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3819024
hg1919024
hg1819024
hg1719024
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509237
Supporting Variants
SamplesNA18994
Known GenesMIR5707, PTPRN2
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)nssv623523
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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