A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622718



Internal ID15474605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41455775..41574964hg38UCSC Ensembl
Outerchr17:39612027..39731216hg19UCSC Ensembl
Outerchr17:36865553..36984742hg18UCSC Ensembl
Outerchr17:36865553..36984742hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38119190
hg19119190
hg18119190
hg17119190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510711
Supporting Variants
SamplesNA18994
Known GenesKRT13, KRT15, KRT19, KRT32, KRT35, KRT36, KRT9, LINC00974, MIR6510
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)nssv622718
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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