A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617749



Internal ID15816904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:132835728..132841728hg38UCSC Ensembl
Outerchr7:132520488..132526488hg19UCSC Ensembl
Outerchr7:132171028..132177028hg18UCSC Ensembl
Outerchr7:131977743..131983743hg17UCSC Ensembl
Cytoband7q32.3
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 Variantsnsv507419
Supporting Variants
SamplesCHM
Known GenesCHCHD3
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)nssv617749
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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