A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7320



Internal ID15536544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:29168161..29213373hg38UCSC Ensembl
Outerchr17:27495179..27540391hg19UCSC Ensembl
Outerchr17:24519305..24564517hg18UCSC Ensembl
Outerchr17:24519305..24564517hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3845213
hg1945213
hg1845213
hg1745213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2020
Supporting Variants
SamplesNA12156
Known GenesMYO18A
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)nssv7320
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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