A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622604



Internal ID15821177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144970758..145056303hg38UCSC Ensembl
Outerchr8:146196144..146281689hg19UCSC Ensembl
Outerchr8:146166948..146252493hg18UCSC Ensembl
Outerchr8:146166948..146252493hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3885546
hg1985546
hg1885546
hg1785546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508533
Supporting Variants
SamplesNA18994
Known GenesC8orf33, TMED10P1, ZNF252P, ZNF252P-AS1
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)nssv622604
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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