A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619497



Internal ID15471392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102563030..102662120hg38UCSC Ensembl
Outerchr7:102203477..102302567hg19UCSC Ensembl
Outerchr7:101990575..102089803hg18UCSC Ensembl
Outerchr7:101797290..101896518hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38103837
hg19103837
hg18103837
hg17103837
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509219
Supporting Variants
SamplesNA10860
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
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)nssv619497
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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