A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619502



Internal ID15471397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:155753030..155823428hg38UCSC Ensembl
Outerchr7:155545724..155616122hg19UCSC Ensembl
Outerchr7:155238485..155308883hg18UCSC Ensembl
Outerchr7:155045200..155115598hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg383286
hg193286
hg183286
hg173286
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509227
Supporting Variants
SamplesNA10860
Known GenesRBM33, SHH
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)nssv619502
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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