A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621079



Internal ID15473743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:891406..985724hg38UCSC Ensembl
Outerchr1:826786..921104hg19UCSC Ensembl
Outerchr1:816649..910967hg18UCSC Ensembl
Outerchr1:866649..961171hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg384549
hg194549
hg184549
hg174549
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509035
Supporting Variants
SamplesNA15510
Known GenesC1orf170, KLHL17, LOC100130417, NOC2L, PLEKHN1, SAMD11
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)nssv621079
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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