A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149749



Internal ID15881139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18100531..18142976hg38UCSC Ensembl
Innerchr17:18003845..18046290hg19UCSC Ensembl
Innerchr17:17944570..17987015hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3842446
hg1942446
hg1842446
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv574527
Supporting Variants
SamplesNINDS_71
Known GenesDRG2, MYO15A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149749
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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