A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619698



Internal ID15471593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89513538..89775915hg38UCSC Ensembl
Outerchr16:89579946..89842323hg19UCSC Ensembl
Outerchr16:88107447..88369824hg18UCSC Ensembl
Outerchr16:88107447..88369824hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3814782
hg1914782
hg1814782
hg1714782
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509639
Supporting Variants
SamplesNA10860
Known GenesCDK10, CHMP1A, CPNE7, DPEP1, FANCA, RPL13, SNORD68, SPATA2L, SPATA33, SPG7, VPS9D1, VPS9D1-AS1, ZNF276
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)nssv619698
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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