A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619719



Internal ID15471614
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
hg384496
hg194496
hg184496
hg174496
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509674
Supporting Variants
SamplesNA10860
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)nssv619719
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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