A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623422



Internal ID15821995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:181234123..181248494hg38UCSC Ensembl
Outerchr4:182155276..182169647hg19UCSC Ensembl
Outerchr4:182392270..182406641hg18UCSC Ensembl
Outerchr4:182530425..182544796hg17UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg387561
hg197561
hg187561
hg177561
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509026
Supporting Variants
SamplesNA18994
Known Genes
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)nssv623422
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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