A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510977



Internal ID15478471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:7089641..8164506hg38UCSC Ensembl
Outerchr8:6947163..8022028hg19UCSC Ensembl
Outerchr8:6934573..8059438hg18UCSC Ensembl
Outerchr8:6934573..8059438hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381074866
hg191074866
hg181124866
hg171124866
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621605, nssv624323
SamplesNA18994, NA15510
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, LINC00965, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
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)nsv510977
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex2
Frequencyn/a


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