A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619976



Internal ID15819333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73869074..73924873hg38UCSC Ensembl
Outerchr6:74578788..74634589hg19UCSC Ensembl
Outerchr6:74635518..74691317hg18UCSC Ensembl
Outerchr6:74635518..74691317hg17UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3855800
hg1955802
hg1855800
hg1755800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508412
Supporting Variants
SamplesNA15510
Known Genes
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)nssv619976
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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