A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2053



Internal ID15199930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41565716..41598940hg38UCSC Ensembl
Outerchr17:39721968..39755192hg19UCSC Ensembl
Outerchr17:36975494..37008718hg18UCSC Ensembl
Outerchr17:36975494..37008718hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg386504
hg196504
hg186504
hg176504
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4266
SamplesNA12878
Known GenesKRT14, KRT9
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv2053
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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