A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619496



Internal ID15471391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102563030..102563030hg38UCSC Ensembl
Outerchr7:102203477..102203477hg19UCSC Ensembl
Outerchr7:101990575..101990575hg18UCSC Ensembl
Outerchr7:101797290..101797290hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3899893
hg1999893
hg1899893
hg1799893
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509219
Supporting Variants
SamplesNA10860
Known GenesPOLR2J3
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)nssv619496
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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