A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621047



Internal ID15473711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76052197..76106436hg38UCSC Ensembl
Outerchr17:74048278..74102517hg19UCSC Ensembl
Outerchr17:71559873..71614112hg18UCSC Ensembl
Outerchr17:71559873..71614112hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg383700
hg193700
hg183700
hg173700
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509674
Supporting Variants
SamplesNA15510
Known GenesEXOC7, GALR2, MIR6868, SRP68, ZACN
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)nssv621047
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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