A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996363



Internal ID15235223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:56206217..57706217hg38UCSC Ensembl
Outerchr12:56600001..58100000hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg381500001
hg191500000
Variant TypeCNV loss
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)nssv2996363
Frequency
Sample Size39
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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