A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013998



Internal ID19103217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127541503..127598316hg38UCSC Ensembl
Innerchr2:128299079..128355891hg19UCSC Ensembl
Innerchr2:128015549..128072361hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3856814
hg1956813
hg1856813
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4067n100
Supporting Variantsnssv3729227, nssv3580773, nssv3580774, nssv3580775, nssv3580776
Samples
Known GenesMYO7B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013998
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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