A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052698



Internal ID19141917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19014957..19956767hg38UCSC Ensembl
Innerchr14:19602662..20424926hg19UCSC Ensembl
Innerchr14:18672662..19494766hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38941811
hg19822265
hg18822105
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1766n100
Supporting Variantsnssv3529650, nssv3529654, nssv3529651, nssv3529652, nssv3529653
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052698
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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