A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623679



Internal ID15822252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:85210990..85295599hg38UCSC Ensembl
Outerchr15:85754221..85838830hg19UCSC Ensembl
Outerchr15:83555225..83639834hg18UCSC Ensembl
Outerchr15:83555225..83639834hg17UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg3811075
hg1911075
hg1811075
hg1711075
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509580
Supporting Variants
SamplesNA18994
Known GenesLOC440300
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)nssv623679
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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