A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996402



Internal ID15235262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:56206217..57706217hg38UCSC Ensembl
Outerchr12:56600001..58100000hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg381500001
hg191500000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv482992
Supporting Variants
Samples
Known GenesANKRD52, APOF, ARHGAP9, ARHGEF25, ATP5B, B4GALNT1, BAZ2A, CNPY2, COQ10A, CS, DCTN2, DDIT3, DTX3, GLI1, GLS2, GPR182, HSD17B6, IL23A, INHBC, INHBE, KIF5A, LRP1, MARS, MBD6, MIP, MIR1228, MIR6758, MYO1A, NAB2, NABP2, NACA, NDUFA4L2, NXPH4, OS9, PAN2, PIP4K2C, PRIM1, PTGES3, R3HDM2, RBMS2, RDH16, RNF41, SDR9C7, SHMT2, SLC26A10, SLC39A5, SNORD59A, SNORD59B, SPRYD4, STAC3, STAT2, STAT6, TAC3, TIMELESS, TMEM194A, ZBTB39
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nssv2996402
Frequency
Sample Size39
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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