A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057238



Internal ID19146457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20831310..20883680hg38UCSC Ensembl
Innerchr17:20734623..20786993hg19UCSC Ensembl
Innerchr17:20675215..20727585hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3852371
hg1952371
hg1852371
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3122n100
Supporting Variantsnssv3560916
Samples
Known GenesCCDC144NL, LOC440416
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057238
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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