A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1357n223



Internal ID22804325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6012501..7083700hg38UCSC Ensembl
chr12:6121667..7189876hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381071200
hg191068210
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6472373, nsv6472196
Samples
Known GenesACRBP, ATN1, C12orf57, C1R, C1S, CD27, CD27-AS1, CD4, CD9, CDCA3, CHD4, COPS7A, DSTNP2, EMG1, ENO2, GAPDH, GNB3, GPR162, IFFO1, ING4, LAG3, LEPREL2, LPAR5, LPCAT3, LRRC23, LTBR, MIR141, MIR200C, MLF2, MRPL51, NCAPD2, NOP2, PHB2, PIANP, PLEKHG6, PTMS, PTPN6, RPL13P5, SCARNA10, SCARNA11, SCARNA12, SCNN1A, SPSB2, TAPBPL, TNFRSF1A, TPI1, USP5, VAMP1, VWF, ZNF384
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv1357n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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