A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623467



Internal ID15475354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:360763..416001hg38UCSC Ensembl
Outerchr6:360763..416001hg19UCSC Ensembl
Outerchr6:305763..361001hg18UCSC Ensembl
Outerchr6:305763..361001hg17UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg384951
hg194951
hg184951
hg174951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv509115
Supporting Variants
SamplesNA18994
Known GenesIRF4
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)nssv623467
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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