A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623656



Internal ID15822229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113408681..113432073hg38UCSC Ensembl
Outerchr13:114062996..114086388hg19UCSC Ensembl
Outerchr13:113110997..113134389hg18UCSC Ensembl
Outerchr13:113110997..113134389hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg383276
hg193276
hg183276
hg173276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509522
Supporting Variants
SamplesNA18994
Known GenesADPRHL1
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)nssv623656
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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