A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3712617



Internal ID18664212
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 StatusS
Merged Variantsnsv1052567
Supporting Variants
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)nssv3712617
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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