A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623722



Internal ID15475609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:74166954..74285634hg38UCSC Ensembl
Outerchr17:72163093..72281773hg19UCSC Ensembl
Outerchr17:69674688..69793368hg18UCSC Ensembl
Outerchr17:69674688..69793368hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg386588
hg196588
hg186588
hg176588
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509673
Supporting Variants
SamplesNA18994
Known GenesDNAI2, MGC16275, RPL38, TTYH2
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)nssv623722
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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