A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057006



Internal ID19146225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:150721..239022hg38UCSC Ensembl
Innerchr17:514..88813hg19UCSC Ensembl
Innerchr17:514..88813hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3888302
hg1988300
hg1888300
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3069n100
Supporting Variantsnssv3719131
Samples
Known GenesDOC2B, LOC100506371, RPH3AL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057006
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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