A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623477



Internal ID15475364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:44123721..44185060hg38UCSC Ensembl
Outerchr6:44091458..44152797hg19UCSC Ensembl
Outerchr6:44199436..44260775hg18UCSC Ensembl
Outerchr6:44199436..44260775hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg383369
hg193369
hg183369
hg173369
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509132
Supporting Variants
SamplesNA18994
Known GenesCAPN11, MRPL14, TMEM63B
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)nssv623477
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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