A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056240



Internal ID18798771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81415451..81462332hg38UCSC Ensembl
Innerchr17:79389251..79429358hg19UCSC Ensembl
Innerchr17:77003846..77043953hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3846882
hg1940108
hg1840108
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3293n100
Supporting Variantsnssv3567878, nssv3567880, nssv3567876, nssv3567875, nssv3567877, nssv3567879
Samples
Known GenesBAHCC1, MIR3186
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056240
Frequency
Sample Size29084
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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