A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510712



Internal ID15478208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43203260..43333506hg38UCSC Ensembl
Outerchr17:41355277..41410874hg19UCSC Ensembl
Outerchr17:38710803..38766400hg18UCSC Ensembl
Outerchr17:38710803..38766400hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38130247
hg1955598
hg1855598
hg1755598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622719, nssv618946
SamplesNA18994, NA10860
Known GenesLINC00854, NBR1, TMEM106A
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)nsv510712
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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