A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619617



Internal ID15471512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123906658..123925483hg38UCSC Ensembl
Outerchr12:124391205..124410030hg19UCSC Ensembl
Outerchr12:122957158..122975983hg18UCSC Ensembl
Outerchr12:122916085..122934910hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383556
hg193556
hg183556
hg173556
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509484
Supporting Variants
SamplesNA10860
Known GenesDNAH10
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)nssv619617
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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