A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617417



Internal ID15816572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:81408280..81440660hg38UCSC Ensembl
Outerchr14:81874624..81907004hg19UCSC Ensembl
Outerchr14:80944377..80976757hg18UCSC Ensembl
Outerchr14:80944377..80976757hg17UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3832381
hg1932381
hg1832381
hg1732381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510645
Supporting Variants
SamplesCHM
Known GenesSTON2
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)nssv617417
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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