A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013925



Internal ID19103144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127541503..127606073hg38UCSC Ensembl
Innerchr2:128299079..128363648hg19UCSC Ensembl
Innerchr2:128015549..128080118hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3864571
hg1964570
hg1864570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4067n100
Supporting Variantsnssv3580782, nssv3580781
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)nsv1013925
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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