A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052567



Internal ID18795098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:126711342..128427644hg38UCSC Ensembl
Innerchr12:127195888..128912189hg19UCSC Ensembl
Innerchr12:125761841..127478142hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381716303
hg191716302
hg181716302
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1573n100
Supporting Variantsnssv3712617
Samples
Known GenesFLJ37505, LINC00507, LINC00943, LINC00944, LOC100996679, LOC101927592, LOC101927694, LOC440117, MIR3612, TMEM132C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052567
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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