A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623697



Internal ID15475584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:57720104..57826484hg38UCSC Ensembl
Outerchr16:57754016..57860388hg19UCSC Ensembl
Outerchr16:56311517..56417889hg18UCSC Ensembl
Outerchr16:56311517..56417889hg17UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg385043
hg195043
hg185043
hg175043
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509622
Supporting Variants
SamplesNA18994
Known GenesCCDC135, KATNB1, KIFC3, LOC388282, MIR6772
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)nssv623697
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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