A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623501



Internal ID15475388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:881218..1018010hg38UCSC Ensembl
Outerchr7:920855..1057646hg19UCSC Ensembl
Outerchr7:887381..1024172hg18UCSC Ensembl
Outerchr7:694096..830887hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3824020
hg1924020
hg1824020
hg1724020
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509182
Supporting Variants
SamplesNA18994
Known GenesADAP1, C7orf50, COX19, CYP2W1, GET4
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)nssv623501
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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